All individuals with variants in gene RAB39B

38 entries on 1 page. Showing entries 1 - 38.
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00050693 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? drooling, unsteady gait, abnormal facial shape, lactose intolerance 1 1 Johan den Dunnen
00103863 19377225-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00103864 20159109-FamXPatII3 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 3-generation family, 6 affecteds (four brothers and two maternal uncles), unaffected carrier females M no - - - - - - MRX;IDX mild intellectual disability, height 163cm (<3rd percentile), 59cm (above 97th percentile) 1 6 Johan den Dunnen
00103865 20159109-FamXPatII4 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 brother of PatII4 M no - - - - - - MRX;IDX severe ID, height 170cm (3rd percentile), OFC 62.5cm (above 97th percentile) 1 1 Johan den Dunnen
00103866 20159109-FamXPatII1 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4 M no - - - - - - MRX;IDX moderate intellectual disability, height 178.5cm (50th percentile), 60.6cm (above 97th percentile), obesity 1 1 Johan den Dunnen
00103867 20159109-FamXPatII2 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1 M no - - - - - - MRX;IDX moderate intellectual disability, height 177.5cm (50th percentile), 56.5.6cm (above 97th percentile) 1 1 Johan den Dunnen
00103868 20159109-FamXPatII3 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1 M no - - - - - - MRX;IDX moderate intellectual disability, height 145.5cm (3rd percentile), 57cm (above 97th percentile), autism 1 1 Johan den Dunnen
00103869 20159109-FamXPatII4 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1, twin of PatIII3 M no - - - - - - MRX;IDX severe intellectual disability, height 145.7cm (3rd percentile), 56.5cm (above 97th percentile), autism 1 1 Johan den Dunnen
00103870 20159109-FamMRX72PatIII9 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 4-generation family, 8 affecteds M no Italy - - - - - MRX;IDX moderate/severe intellectual disability, seizures 1 8 Johan den Dunnen
00103871 20159109-FamMRX72PatIII4 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1 M no Italy - - - - - MRX;IDX moderate/severe intellectual disability, seizures 1 1 Johan den Dunnen
00103872 20159109-FamMRX72PatIII5 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1 M no Italy - - - - - MRX;IDX moderate/severe intellectual disability, seizures 1 1 Johan den Dunnen
00103873 20159109-FamMRX72PatIV5 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1, twin of PatIII3 M no Italy - - - - - MRX;IDX moderate/severe intellectual disability, autism spectrum disorder 1 1 Johan den Dunnen
00103874 20159109-Pats PubMed: Giannandrea 2010, Journal: Giannandrea 2010 526 unmapped X-linked patients seizures and autism spectrum disorder. - - Italy - - - - - ? autism spectrum disorder 1 2 Johan den Dunnen
00183162 25644381-FamN188 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00208626 - - - M - Germany - - - - - - HP:0001249 (Intellectual disability) 1 1 Andreas Laner
00208796 - - - M - Germany - - - - - - HP:0001249 (Intellectual disability); HP:0100022 (Abnormality of movement); HP:0002086 (Abnormality of the respiratory system); HP:0001337 (Tremor); HP:0004373 (Focal dystonia); HP:0007351 (Upper limb postural tremor); HP:0012638 (Abnormality of nervous system physiology); HP:0005957 (Breathing dysregulation) 1 1 Andreas Laner
00286192 FamAusPatII3 PubMed: Wilsoni 2014 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M - Australia - - - - - PARK normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; not able to read, able to write; no independent living; obsessional behavior; ritualistic behavior; tremor onset late childhood; postural/upper limb tremor; no choreoathetosis; no shuffling gait; no bradykinesia; no dyskinesia; no cogwheel rigidity; no hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; normal copper testing; normal blood count and chemistry; normal urine metabolic testing 1 3 Johan den Dunnen
00286193 FamAusPatII2 PubMed: Wilsoni 2014 PatII2 M - Australia - - - - - PARK normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 38y-tremor onset; 44y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response; hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; MRI normal; normal copper testing; normal blood count and chemistry; normal urine metabolic testing 1 1 Johan den Dunnen
00286194 FamAusPatII1 PubMed: Wilsoni 2014 PatII1 M - Australia - - - - - PARK normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 44y-tremor onset; 45y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response (with side effects); hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; dementia; no skin depigmented papules; MRI T2 weighted slight bilateral reduction signal intensity substantia nigra and globus pallidus; normal copper testing; normal blood count and chemistry; normal urine metabolic testing 1 1 Johan den Dunnen
00286195 FamWis PubMed: Wilsoni 2014 3-generation family, 7 affected (7M), 2 unaffected heterozygous carrier mothers M - United States - - - - - PARK normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; independent living; hyperactive/disruptive behaviour (1/6); 10‐20s tremor onset; 20s-parkinsonism diagnosis; postural/upper limb tremor (4/6); choreoathetosis (1/6); shuffling gait (5/6); bradykinesia; cogwheel rigidity; no L‐dopa response (3/3); hyopkinetic dysarthria; normal cerebellar function; seizures (2/6); macrocephaly; frontal bossing; normal eye examination (4/6); strabismus (1/6); iris coloboma (1/6); hydrops (1/6); high arched palate (5/6); skin depigmented papules 4/6; CT-scan megalencephaly; EEG abnormal (2/6); normal copper testing; normal blood count and chemistry; normal urine metabolic testing 1 7 Johan den Dunnen
00286197 Family PubMed: Mata 2016 4-generation family, 7 affected (2F, 5M), unaffected heterozygous carrier parents; 5 affected males, 1 unaffected carrier male (41y) M no United States Europe - - - - PARK see paper; ..., bradykinesia, rigidity, resting tremor, postural instability, unilateral onset, Levodopa response(4/4), Levodopa-induced dyskinesia (3/4), mild intellectual disability (2/5) 1 7 Johan den Dunnen
00286198 Family PubMed: Mata 2016 2 affected/3 unaffected heterozygous carrier females F no United States Europe - - - - PARK see paper; ..., bradykinesia, rigidity, resting tremor (1/2), postural instability (1/2), unilateral onset, Levodopa response, Levodopa-induced dyskinesia (1/2), no mild intellectual disability 1 2 Johan den Dunnen
00286199 Fam PubMed: Mata 2016 family from PaGeR cohorts, affected female (affected father not analysed F - United States - - - - - PARK - 1 1 Johan den Dunnen
00286200 Fam PubMed: Mata 2016 family from PaGeR cohorts, affected female (affected father not analysed F - United States - - - - - PARK - 1 1 Johan den Dunnen
00294997 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 79 Mohammed Faruq
00294998 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 10 Mohammed Faruq
00302607 FamPatIV12 PubMed: Gao 2020 3-generation family, 7 affected males, 2 unaffected carrier females M no Australia - - - - - ? see paper; ..., megalocephaly, nonprogressive intellectual disability, early‐onset parkinsonism; 2y-motor seizures; 9y-very inadequate hand and eye coordination, elective mutism, megalocephaly, IQ 69; ... 1 1 Yujing Gao
00305285 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 88 Mohammed Faruq
00305286 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00317978 FamPatIII1 PubMed: Santoro 2020 3-generation family, 2 affected (ID), 3 unaffected carrier females M no Italy - - - - - ?, MRX72, NF , multiple café-au-lait macules and freckling, severe macrocephaly, peculiar facial gestalt, severe intellectual disability, absent speech, epilepsy, autistic traits, self-harming, aggressiveness 1 2 Giulio Piluso
00318043 FamPatII4 PubMed: Santoro 2020 uncle M - Italy - - - - - ID see paper; ... 1 1 Johan den Dunnen
00319851 - PubMed: Gao 2020 - M - Australia - - - - - PARK - 1 1 Yujing Gao
00319852 - PubMed: Gao 2020 - M - Australia - - - - - PARK - 1 1 Yujing Gao
00319853 - PubMed: Gao 2020 - M - Australia - - - - - PARK - 1 1 Yujing Gao
00324410 MRtrio2 PubMed: Vissers 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M - (Netherlands) - - - - - ID see paper; ... 1 1 Johan den Dunnen
00449801 - - - M - - (not applicable) white - - - - ADHD HP:0012758, HP:0001288 1 1 Marketa Wayhelova
00458047 - - - M - - (not applicable) white - - - - NDD HP:0007018, HP:0001263, HP:0001270, HP:0001288, HP:0000729 1 1 Marketa Wayhelova
00460887 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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