PanelApp
  1. Genes and Genomic Entities
  2. ARID1B

ARID1B

AT-rich interaction domain 1B
OMIM: 614556, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green ARID1B in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red ARID1B in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Coffin-Siris syndrome 1, MIM#135900

Green ARID1B in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.474

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 1, MIM# 135900

Green ARID1B in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.72

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Coffin-Siris syndrome 1, MIM# 135900

Green ARID1B in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.132

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Coffin-Siris syndrome 1 MONDO:0007617

Green ARID1B in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.46

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ARID1B in Mendeliome


Version 1.3512

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 1 MIM#135900

Green ARID1B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Coffin-Siris syndrome 1 MIM#135900

    Green ARID1B in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ARID1B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Coffin-Siris syndrome 1, MIM 135900

    Green ARID1B in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Coffin-Siris syndrome type 1 - 135900
    • Coffin-Siris

    Green ARID1B in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Coffin-Siris syndrome

    Amber ARID1B in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Coffin-Siris syndrome 1, OMIM:135900

    Green ARID1B in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.78

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Coffin-Siris syndrome type 1 - 135900

    Green ARID1B in Fetal anomalies


    Version 1.465

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Coffin-Siris syndrome 1, MIM 135900

    Red ARID1B in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Coffin-Siris syndrome 1 MIM#135900