Individual #00444385

ID_report	FamPatII1/2
Reference	PubMed: Fiorini 2023
Remarks	2-generation family, 2 affected sisters, unaffected heterozygous parents
Gender	F
Consanguinity	-
Country	Italy
Population	-
Age at death	-
VIP	-
Data_av	-
Treatment	-
Panel size	2
Diseases	OPA
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-23 19:45:15 +01:00 (CET)
Date last edited	N/A

Phenotypes

atrophy, optic (OPA) (OPA)

Add phenotype for this disease

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Birth_Details: birth details individual: gestational age (weeks), premature birth (HP:0001622, <37w); birth weight (in g/SD); birth length (in cm/SD); OFC at birth (in cm/SD)

MotorSkills: development motor skills; age head control (in months), age sitting (without support, in months), age walking (without support, in months); head:7m, sit:10m, walk:24m, delayed gross motor development (HP:0002194), delayed fine motor development (HP:0010862)

Vision/Abnormality: does the individual have vision abnormalities (specify)
All options:

normal = no abnormal vision (-HP:0000504)
abnormal = abnormal vision (HP:0000504)
acuity reduced = reduced visual acuity (HP:0007663)
adjusting luminance changes = difficulty adjusting changes in luminance (HP:0030512)
age = poor visual behavior for age (HP:0025152)
amaurosis fugax = amaurosis fugax (HP:0100576)
binocular vision = abnormal binocular vision (HP:0011514)
blurred vision = blurred vision (HP:0000622)
bradyopsia = bradyopsia (HP:0030511)
color vision = abnormal color vision (HP:0000551)
field defect = visual field defect (HP:0001123)
hemeralopia = hemeralopia (HP:0012047)
impairment = visual impairment (HP:0000505)
loss = visual loss (HP:0000572)
loss nonprogressive = nonprogressive visual loss (HP:0200068)
loss progressive = progressive visual loss (HP:0000529)
loss progressive slow = slow decrease in visual acuity (HP:0007924)
metamorphopsia = metamorphopsia (HP:0012508)
nyctalopia = nyctalopia (HP:0000662)
photophobia = photophobia (HP:0000613)
photopsia = photopsia (HP:0030786)
vitreous floaters = vitreous floaters (HP:0100832)
? = unknown
nr = not reported

Hearing/Loss: individual has hearing loss (hearing defect, hearing impairment), please specify
All options:

abnormal = hearing abnormality (HP:0000364)
hearing loss = hearing loss (defect, impairment) (HP:0000365, +)
aminoglycoside-induced = aminoglycoside-induced hearing loss (HP:0011975)
conductive = hearing loss, conductive (HP:0000405)
conductive bilateral = bilateral conductive hearing loss (HP:0008513)
conductive congenital = congenital conductive hearing loss (HP:0008591)
conductive mild = mild conductive hearing loss (HP:0008598)
conductive progressive = progressive conductive hearing loss (HP:0008607)
high frequency = high frequency hearing loss (progressive) (HP:0005101)
high frequency sensorineural = high frequency sensorineural hearing loss (HP:0001757)
low-frequency = low-frequency hearing loss (HP:0008542)
low-frequency sensorineural = low-frequency sensorineural hearing loss (HP:0008573)
mixed = hearing loss, mixed (HP:0000410)
otitis media = otitis media (HP:0000388)
otitis media acute = acute otitis media (HP:0000371)
otitis media chronic = chronic otitis media (HP:0000389)
otitis media recurrent = recurrent otitis media (HP:0000403)
neurosensory mild = mild neurosensory hearing loss (HP:0008587)
progressive = hearing loss, progressive (HP:0001730)
sensorineural = hearing loss, sensorineural (HP:0000407)
sensorineural bilateral = hearing loss, sensorineural, bilateral (HP:0008619)
sensorineural congenital = hearing loss, congenital sensorineural (HP:0008527)
sensorineural childhood onset = childhood onset sensorineural hearing loss (HP:0011474)
sensorineural infantile = infantile sensorineural hearing loss (HP:0008610)
sensorineural late = late sensorineural hearing loss (HP:0008615)
sensorineural moderate = moderate sensorineural hearing loss (HP:0008504)
sensorineural profound = profound sensorineural hearing loss (HP:0011476)
sensorineural severe = severe sensorineural hearing loss (HP:0008625)
sensorineural postlingual = postlingual sensorineural hearing loss (HP:0008596)
sensorineural prelingual = prelingual sensorineural hearing loss (HP:0000399)
sensorineural progressive = hearing loss, progressive sensorineural (HP:0000408)
normal = normal hearing
? = unknown
nr = not reported

Eye/Optic_Disc: optic disc abnormalities (please specify)
All options:

optic disc = normal optic disc appearance
OD optic disc = normal optic disc appearance
OS optic disc = normal optic disc appearance
aplasia ON = optic nerve aplasia (HP:0012521)
hypoplasia ON = optic nerve hypoplasia (HP:0000609)
hypoplasia OD = optic disc hypoplasia (HP:0007766)
septo-optic dysplasia = septo-optic dysplasia (HP:0100842)
increased ratio = increased cup-to-disc ratio (HP:0012796)
OD increased cup-to-disc ratio (HP:0012796)
OD increased cup-to-disc ratio (HP:0012796) 0-0.4
OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7
OD increased cup-to-disc ratio (HP:0012796) 0.8-1
OS increased cup-to-disc ratio (HP:0012796)
OS increased cup-to-disc ratio (HP:0012796) 0-0.4
OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7
OS increased cup-to-disc ratio (HP:0012796) 0.8-1
drusen = optic disc drusen (HP:0012426)
papilledema = papilledema (HP:0001085)
pseudopapilledema = pseudopapilledema (HP:0000538)
diffuse = diffuse optic disc pallor (HP:0012512)
peripapillary = peripapillary atrophy
temporal = temporal optic disc pallor (HP:0012511)
temporal grey = temporal grey pigmentary crescent
OD normal = normal optic disc appearance
OD centrocecal = centrocecal optic disc
OD diffuse = diffuse optic disc pallor (HP:0012512)
OD peripapillary = peripapillary atrophy
OD temporal = temporal optic disc pallor (HP:0012511)
OD temporal grey = temporal grey pigmentary crescent
OS normal = normal optic disc appearance
OS centrocecal = centrocecal optic disc
OS diffuse = diffuse optic disc pallor (HP:0012512)
OS peripapillary = peripapillary atrophy
OS temporal = temporal optic disc pallor (HP:0012511)
OS temporal grey = temporal grey pigmentary crescent
? = unknown

Protein: result from protein staining

Eye/OCT: optical coherence tomography (OCT) measurement thickness mean retinal nerve fiber layer (RNFL) and/or mean ganglion cell layer (GCL) of oculus dexter ganglion cell layer and/or oculus sinister retinal nerve fiber layer measured using specified device
All options:

OD RNFL ? = OD mean RNFL: not known
OD RNFL normal = OD mean RNFL: normal
OD RNFL temporal = OD mean RNFL: thinning only in the temporal quadrant
OD RNFL superior = OD mean RNFL: thinning only in the superior quadrant
OD RNFL inferior = OD mean RNFL: thinning only in the inferior quadrant
OD RNFL nasal = OD mean RNFL: thinning only in the nasal quadrant
OD RNFL two or more = OD mean RNFL: thinning in 2 or more quadrants
OD GCL ? = OD mean GCL: not known
OD GCL normal = OD mean GCL: normal
OD GCL thinner = OD mean GCL: mean average GCL thickness thinner
OS RNFL ? = OS mean RNFL: not known
OS RNFL normal = OS mean RNFL: normal
OS RNFL temporal = OS mean RNFL: thinning only in the temporal quadrant
OS RNFL superior = OS mean RNFL: thinning only in the superior quadrant
OS RNFL inferior = OS mean RNFL: thinning only in the inferior quadrant
OS RNFL nasal = OS mean RNFL: thinning only in the nasal quadrant
OS RNFL two or more = OS mean RNFL: thinning in 2 or more quadrants
OS GCL ? = OS mean GCL: not known
OS GCL normal = OS mean GCL: normal
OS GCL thinner = OS mean GCL: mean average GCL thickness thinner
cirrus = device cirrus
stratus = device stratus
Heidelberg = device Heidelberg
other = device other

Habits: habits of the individual (please specify)
All options:

alcohol: none
alcohol: occasionally
alcohol: 1-7 drinks/week
alcohol: 8-14 drinks/week
alcohol: 15-21 drinks/week
alcohol: >21 drinks/week
tobacco: none
tobacco: occasionally
tobacco: 1-5 packs/year
tobacco: 6-10 packs/year
tobacco: 11-15 packs/year
tobacco: 16-20 packs/year
tobacco: >20 packs/year
? = unknown
nr = not reported

Brain/Imaging: imaging brain performed (please specifcy), MRI (magnetic resonance imaging), MR-spec (magnetic resonance spectroscopy)
All options:

MRI = brain MRI performed
CT = CT scan performed
normal = no abnormalities MRI brain
basal ganglia abnormality (HP:0002134)
basal ganglia calcification (HP:0002135)
brainstem abnormality (HP:0002363)
cerebellar atrophy (HP:0001272)
cerebellar vermis atrophy (HP:0006855)
cerebral atrophy (HP:0002059)
cerebral atrophy, diffuse (HP:0002506)
cerebral dysmyelination (HP:0007266)
colpocephaly (HP:0030048)
corpus callosum abnormality (HP:001273)
corpus callosum hypoplasia (HP:0002079)
corpus callosum agenesis (HP:0001274)
corpus callosum agenesis partial (HP:0001388)
Dandy-Walker malformation (HP:0001305)
cortical atrophy (HP:0002120)
cortical lesions, posterior
grey matter abnormality
leukodystrophy (HP:0002415)
optic atrophy (HP:0000648)
optic nerve abnormality (HP:0000587)
optic nerve chiasmal lesions
peripheral neuropathy, demyelinating (HP:0007108)
peripheral neuropathy, demyelinating, mild (HP:0007108)
peripheral neuropathy, demyelinating, severe (HP:0007108)
peripheral neuropathy, demyelinating (HP:0007108)
stroke-like lesions
white matter abnormalities (HP:002500)
MRspec = brain magnetic resonance spectroscopy performed
MRspec lactate peak
no = no brain imaging performed
? = unknown
nr = not reported

Vision/Acuity: abnormal visual acuity (specify)
All options:

OD normal = oculus dexter normal visual acuity (-HP:0030532)
OD abnormal = oculus dexter abnormal best corrected visual acuity test (HP:0030534)
OD 0.1 LogMAR = oculus dexter best corrected visual acuity 0.1 LogMAR (HP:0030554)
OD 0.2 LogMAR = oculus dexter best corrected visual acuity 0.2 LogMAR (HP:0030555)
OD 0.3 LogMAR = oculus dexter best corrected visual acuity 0.3 LogMAR (HP:0030556)
OD 0.4 LogMAR = oculus dexter best corrected visual acuity 0.4 LogMAR (HP:0030557)
OD 0.5 LogMAR = oculus dexter best corrected visual acuity 0.5 LogMAR (HP:0030558)
OD 0.6 LogMAR = oculus dexter best corrected visual acuity 0.6 LogMAR (HP:0030559)
OD 0.7 LogMAR = oculus dexter best corrected visual acuity 0.7 LogMAR (HP:0030560)
OD 0.8 LogMAR = oculus dexter best corrected visual acuity 0.8 LogMAR (HP:0030561)
OD 0.9 LogMAR = oculus dexter best corrected visual acuity 0.9 LogMAR (HP:0030562)
OD 1.0 LogMAR = oculus dexter best corrected visual acuity 1.0 LogMAR (HP:0030563)
OD 1.1 LogMAR = oculus dexter best corrected visual acuity 1.1 LogMAR (HP:0030564)
OD 1.2 LogMAR = oculus dexter best corrected visual acuity 1.2 LogMAR (HP:0030565)
OD 1.3 LogMAR = oculus dexter best corrected visual acuity 1.3 LogMAR (HP:0030566)
OD 2.0 LogMAR = oculus dexter best corrected visual acuity 2.0 LogMAR (HP:0030567)
OD 3.0 LogMAR = oculus dexter best corrected visual acuity 3.0 LogMAR (HP:0030568)
OD light perception w/o projection = oculus dexter visual acuity light perception without projection (HP:0030552)
OD no light perception = oculus dexter visual acuity no light perception (HP:0030553)
OD ? = oculus dexter unknown
OS normal = oculus sinister normal visual acuity (-HP:0030532)
OS abnormal = oculus sinister abnormal best corrected visual acuity test (HP:0030534)
OS 0.1 LogMAR = oculus sinister best corrected visual acuity 0.1 LogMAR (HP:0030554)
OS 0.2 LogMAR = oculus sinister best corrected visual acuity 0.2 LogMAR (HP:0030555)
OS 0.3 LogMAR = oculus sinister best corrected visual acuity 0.3 LogMAR (HP:0030556)
OS 0.4 LogMAR = oculus sinister best corrected visual acuity 0.4 LogMAR (HP:0030557)
OS 0.5 LogMAR = oculus sinister best corrected visual acuity 0.5 LogMAR (HP:0030558)
OS 0.6 LogMAR = oculus sinister best corrected visual acuity 0.6 LogMAR (HP:0030559)
OS 0.7 LogMAR = oculus sinister best corrected visual acuity 0.7 LogMAR (HP:0030560)
OS 0.8 LogMAR = oculus sinister best corrected visual acuity 0.8 LogMAR (HP:0030561)
OS 0.9 LogMAR = oculus sinister best corrected visual acuity 0.9 LogMAR (HP:0030562)
OS 1.0 LogMAR = oculus sinister best corrected visual acuity 1.0 LogMAR (HP:0030563)
OS 1.1 LogMAR = oculus sinister best corrected visual acuity 1.1 LogMAR (HP:0030564)
OS 1.2 LogMAR = oculus sinister best corrected visual acuity 1.2 LogMAR (HP:0030565)
OS 1.3 LogMAR = oculus sinister best corrected visual acuity 1.3 LogMAR (HP:0030566)
OS 2.0 LogMAR = oculus sinister best corrected visual acuity 2.0 LogMAR (HP:0030567)
OS 3.0 LogMAR = oculus sinister best corrected visual acuity 3.0 LogMAR (HP:0030568)
OS light perception w/o projection = oculus sinister visual acuity light perception without projection (HP:0030552)
OS no light perception = oculus sinister visual acuity no light perception (HP:0030553)
OS ? = oculus sinister unknown
OD excellent = oculus dexter excellent visual acuity (Log MAR below 0.1)
OD moderate = oculus dexter moderately impaired visual acuity (Log MAR: 0.2-0.1)
OD severe = oculus dexter severely impaired visual acuity (Log MAR: 0.9-0.3)
OD profound = oculus dexter profound visual acuity loss (Log MAR above 0.9)
OS excellent = oculus sinister excellent visual acuity (Log MAR below 0.1)
OS moderate = oculus sinister moderately impaired visual acuity (Log MAR: 0.2-0.1)
OS severe = oculus sinister severely impaired visual acuity (Log MAR: 0.9-0.3)
OS profound = oculus sinister profound visual acuity loss (Log MAR above 0.9)

Vision/Colour: colour vision tested using e.g. Ishihara color vision test, desaturated 15 Hue test or Farnsworth 100 Hue test
All options:

abnormal = abnormal colour vision (HP:0000551)
normal = normal colour vision
deuteranopia = deuteranopia (HP:0011521)
dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
protanopia = protanopia (red/green) (HP:0011522)
tritanopia = tritanopia (blue/yellow) (HP:0000552)
OD normal = normal colour vision
OD deuteranopia = deuteranopia (HP:0011521)
OD dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
OD protanopia = protanopia (red/green) (HP:0011522)
OD tritanopia = tritanopia (blue/yellow) (HP:0000552)
OS normal = normal colour vision
OS deuteranopia = deuteranopia (HP:0011521)
OS dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
OS protanopia = protanopia (red/green) (HP:0011522)
OS tritanopia = tritanopia (blue/yellow) (HP:0000552)
OD ? = OD unknown
OS ? = OD unknown
? = unknown

Vision/Field: visual field defect
All options:

normal = normal visual field
arcuate = arcuate scotoma (HP:0030530)
central = central scotoma (HP:0000603)
centrocecal = centrocecal scotoma (HP:0000576)
paracentral = paracentral scotoma (HP:0030528)
pericentral = pericentral scotoma (HP:0007761)
ring = ring scotoma (HP:0030529)
scintillating = scintillating scotoma (HP:0010822)
? = unknown visual field defect
OD Goldmann = Goldmann type visual field oculus dexter
OD Humphrey = Humphrey/Octopus type automated perimetry oculus dexter
OD above 0 = oculus dexter mean deviation above 0
OD 0 to -4 = oculus dexter mean deviation 0 to -4
OD -4.01 to -12 = oculus dexter mean deviation -4.01 to -12
OD -12.01 to -20 = oculus dexter mean deviation -12.01 to -20
OD below -20 = oculus dexter mean deviation below -20
OD normal = normal oculus dexter
OD centrocecal = centrocecal scotoma (HP:0000576) oculus dexter
OD central = central scotoma (HP:0000603) oculus dexter
OD paracentral = paracentral scotoma (HP:0030528) oculus dexter
OD superotemporal = defect superotemporal visual field oculus dexter
OD undefined = undefined central defect oculus dexter
OS Goldmann = Goldmann type visual field oculus sinister
OS Humphrey = Humphrey/Octopus type automated perimetry oculus sinister
OS above 0 = oculus dexter mean deviation above 0
OS 0 to -4 = oculus dexter mean deviation 0 to -4
OS -4.01 to -12 = oculus dexter mean deviation -4.01 to -12
OS -12.01 to -20 = oculus dexter mean deviation -12.01 to -20
OS below -20 = oculus dexter mean deviation below -20
OS normal = normal oculus sinister
OS centrocecal = centrocecal scotoma (HP:0000576) oculus sinister
OS central = central scotoma (HP:0000603) oculus sinister
OS paracentral = paracentral scotoma (HP:0030528) oculus sinister
OS superotemporal = defect superotemporal visual field oculus sinister
OS undefined = undefined central defect oculus sinister

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Birth_Details	MotorSkills	Vision/Abnormality	Hearing/Loss	Eye/Optic_Disc	Protein	Eye/OCT	Habits	Brain/Imaging	Vision/Acuity	Vision/Colour	Vision/Field	Owner
0000333638	see paper; ..., sudden and painless visual loss at young age, partial recovery and persistent central scotoma; 6y-low vision; 12y-headache	Leber’s hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	06y	low vision	-	-	-	-	-	-	-	-	-	-	-	-	Johan den Dunnen

Screenings

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Template: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:

DNA
RNA = RNA (cDNA)
protein
? = unknown

Technique: technique(s) used to identify the sequence variant.
All options:

? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable

Tissue: tissue type used for analysis

Remarks: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.

Screening ID	Template	Technique	Tissue	Remarks	Genes screened	Variants found	Owner
0000445953	DNA	SEQ;SEQ-NG	-	WES	-	1	Johan den Dunnen

Variants

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Classification method: The method used for the clinical classification of this variant.
All options:

ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other

Clinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:

pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA

DNA change (genomic) (hg19): HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup

DNA change (hg38): HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup

Published as: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)

ISCN: description of the variant according to ISCN nomenclature

DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro

Variant remarks: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

Reference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

ClinVar ID: ID of variant in ClinVar database

dbSNP ID: the dbSNP ID

Origin: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:

Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable

Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:

? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable

Frequency: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)

Re-site: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-

VIP: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Methylation: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)

IDbase Accession Number: IDbase Accession Number

VariO/DNA: variation ontology annotation at DNA level
All options:

DNA substitution (VariO:0136)
transition (VariO:0313)
pyrimidine transition (VariO:0314)
purine transition (VariO:0315)
not changed (VariO:0140)
DNA deletion (VariO:0141)
DNA insertion (VariO:0142)
DNA indel (VariO:0143)
DNA inversion (VariO:0145)
DNA translocation (VariO:0144)
transversion (VariO:0316)

VariO/Protein: variation ontology annotation at protein level
All options:

protein truncation (VariO:0015)
sequence retaining amino acid deletion (VariO:0016)
nonsynonymous variation (VariO:0017)
amino acid insertion (VariO:0018)
amphigoric amino acid insertion (VariO:0019)
sequence retaining amino acid insertion (VariO:0020)
amino acid substitution (VariO:0021)
amino acid indel (VariO:0022)
amphigoric amino acid indel (VariO:0023)
missing protein (VariO:0240)
sequence retaining amino acid indel (VariO:0029)
alternatively initiated protein (VariO:0443)
artificial protein variation (VariO:0246)
mistranslated protein (VariO:0330)
protein structural inheritance (VariO:0026)
epigenetic protein variation (VariO:0025)
post translational modification (VariO:0028)
proteinaceous infection (VariO:0027)

VariO/RNA: variation ontology annotation at RNA level
All options:

RNA substitution (VariO:0312)
transition (VariO:0313)
pyrimidine transition (VariO:0314)
purine transition (VariO:0315)
transversion (VariO:0316)
missense variation (VariO:0308)
initiation codon change (VariO:0317)
termination codon change (VariO:0309)
nonsense variation (VariO:0310)
silent variation (VariO:0318)
RNA deletion (VariO:0319)
in-frame deletion (VariO:0320)
out-of-frame deletion (VariO:0321)
RNA insertion (VariO:0326)
in-frame insertion (VariO:0332)
out-of-frame insertion (VariO:0327)
RNA indel (VariO:0311)
in-frame indel (VariO:0030)
out-of-frame indel (VariO:0031)
effect on RNA splicing (VariO:0362)
intron gain (VariO:0364)
RNA splicing change (VariO:0334)
exon loss (VariO:0381)
missing RNA (VariO:0245)
unsense variation (VariO:0514)

Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene

DNA change (cDNA): description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.

Haplotype: haplotype on which variant was found

RNA change: description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

Protein: description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

P-domain: region/domain protein affected

Exon_old: exon number according to older numbering

Predicted: predicted consequence of variant (RNA/protein level)
All options:

missense
nonsense
frameshift
no-stop
silent
splicing affected
splicing affected, exon skipped
splicing affected?
deletion
deletion, small
deletion, large
deletion, exon
deletion, multi exon
duplication
duplication, small
duplication, large
insertion
insertion, small
insertion, large
delins = insertion/deletion
conversion
other/complex

Type/DNA: type of variant at DNA level. NOTE: can be derived automatically from the variant description (for all levels)
All options:

substitution
deletion
deletion, small
deletion, large
duplication
duplication, small
duplication, large
insertion
insertion, small
insertion, large
delins = insertion/deletion
inversion
conversion
transposition
translocation
other/complex

Enzyme activity: activity variant enzym

mRNA level: Level of transcribed mRNA present in peripheral blood mononuclear cells. The level is indicated in relative terms as normal/(much) increased/(much) reduced/absent.

Predict-BioInf: predicted effect of variant using bioinformatic analysis tools (e.g. AGVGD, CADD, conservation, Grantham, MutationTaster, PolyPhen, REVEL, SIFT, splicing, etc.)

Legacy protein change: description of variant at protein level using a traditional (legacy) numbering system.

Protein level: Level of translated protein in peripheral blood mononuclear cells. The level is indicated in relative terms as normal/(much) increased/(much) reduced/absent.

1 entry on 1 page. Showing entry 1.

Legend

How to query

Chr	Allele	Effect	Classification method	Clinical classification	DNA change (genomic) (hg19)	DNA change (hg38)	Published as	ISCN	DB-ID	Variant remarks	Reference	ClinVar ID	dbSNP ID	Origin	Segregation	Frequency	Re-site	VIP	Methylation	Owner	Gene	IDbase Accession Number	VariO/DNA	VariO/Protein	VariO/RNA	Exon	DNA change (cDNA)	Haplotype	RNA change	Protein	P-domain	Exon_old	Predicted	Type/DNA	Enzyme activity	mRNA level	Predict-BioInf	Legacy protein change	Protein level
1	Both (homozygous)	+/.	ACMG	pathogenic (recessive)	g.29527086G>A	g.29200574G>A	-	-	MECR_000008	-	PubMed: Fiorini 2023	-	-	Germline	yes	-	-	-	-	Johan den Dunnen	MECR	-	-	-	-	-	NM_016011.2:c.772C>T	-	r.(?)	p.(Arg258Trp)	-	-	-	-	-	-	-	-	-

Legend

How to query