Global Variome shared LOVD
MCPH1 (microcephalin 1)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View MCPH1 gene homepage
View graphs about the MCPH1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene MCPH1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene MCPH1
View all variants in gene MCPH1
Full data view for gene MCPH1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene MCPH1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene MCPH1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene MCPH1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All diseases
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.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
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.
11 entries on 1 page. Showing entries 1 - 11.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01043
-
bleeding time, prolonged, brachydactyly and mental retardation
-
-
-
-
GNAS
-
-
00228
AIMAH1
hyperplasia, adrenal, ACTH-independent, macronodular, type 1 (AIMAH-1)
219080
SMu
-
-
GNAS
-
-
00139
ID
intellectual disability (ID)
-
-
2714
2396
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 554 more
-
-
00227
MAS;POFD
McCune-Albright syndrome (MAS, polyostotic fibrous dysplasia (POFD))
174800
-
11
9
GNAS
-
-
01044
PAGH1
pituitary adenoma, type 1, multiple types (PITA1)
102200
AD;SMu
-
-
AIP, GNAS, SSTR5
-
-
00223
PHP1A
pseudohypoparathyroidism, type Ia (PHP-1A, Albright hereditary osteodystrophy (AHO))
103580
AD;IC
249
333
GNAS
-
round face, full cheeks, depressed nasal bridge; seizure (HP:0001250)no hypotonia (-HP:0001252); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); multiple hormone resistance, subcutaneous calcification
00222
PHP1B
pseudohypoparathyroidism, type Ib (PHP-1B)
603233
AD
7
3
GNAS, GNAS-AS1, STX16
-
-
00224
PHP1C
pseudohypoparathyroidism, type Ic (PHP-1C)
612462
PI
6
6
GNAS
-
round face, full cheeks, depressed nasal bridge; seizure (HP:0001250)no hypotonia (-HP:0001252); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); multiple hormone resistance, subcutaneous calcification
06512
PITA3
Pituitary adenoma 3, multiple types, somatic
617686
-
-
-
GNAS
-
-
00226
POH
heteroplasia, osseous, progressive (POH)
166350
AD
27
15
GNAS
-
-
00225
PPHP
pseudopseudohypoparathyroidism (PPHP)
612463
AD
29
21
GNAS
-
-
10 per page
25 per page
50 per page
100 per page
Legend
How to query
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators