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  3. ARID1B
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Cerebral Palsy

Gene: ARID1B

Red List (low evidence)
ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 16 panels

1 review

Clare van Eyk (University of Adelaide)

I don't know

1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Created: 27 May 2024, 2:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 1, MIM#135900

Publications

Created: 27 May 2024, 2:58 a.m.

Panel version: 1.193

History Filter Activity

29 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arid1b has been classified as Red List (Low Evidence).

29 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arid1b has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Clare van Eyk (University of Adelaide)

gene: ARID1B was added gene: ARID1B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1B were set to PMID: 38693247 Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, MIM#135900 Review for gene: ARID1B was set to AMBER