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Intellectual disability syndromic and non-syndromic

Gene: CHD3

Green List (high evidence)

CHD3 (chromodomain helicase DNA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000170004
EnsemblGeneIds (GRCh37): ENSG00000170004
OMIM: 602120, Gene2Phenotype
CHD3 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

35 individuals from 33 unrelated families reported with heterozygous variants in this gene.
Sources: Expert list
Created: 27 Nov 2019, 1:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Snijders Blok-Campeau syndrome, MIM#618205

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Snijders Blok-Campeau syndrome, MIM#618205
OMIM
602120
Clinvar variants
Variants in CHD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd3 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd3 has been classified as Green List (High Evidence).

27 Nov 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD3 was added gene: CHD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to 30397230 Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205 Review for gene: CHD3 was set to GREEN gene: CHD3 was marked as current diagnostic