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Autism

Gene: ARID1B

Green List (high evidence)

ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/ARID1B Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder. The number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 21 / 37
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • Coffin-Siris syndrome
  • ASD, DD/NDD, EPS, ADHD, ID, EP
OMIM
614556
Clinvar variants
Variants in ARID1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ARID1B were changed from 22426309; 21448237; 21801163; 24569609; 23160955; 25363760; 22495309; 26401017 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

1 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Coffin-Siris syndrome; ASD, DD/NDD, EPS, ADHD, ID, EP for gene: ARID1B

29 Mar 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ARID1B were changed from to 22426309; 21448237; 21801163; 24569609; 23160955; 25363760; 22495309; 26401017

29 Mar 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ARID1B. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ARID1B was added gene: ARID1B was added to Autism. Sources: SFARI Mode of inheritance for gene: ARID1B was set to