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Intellectual disability

Gene: CHD1

Amber List (moderate evidence)

CHD1 (chromodomain helicase DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000153922
EnsemblGeneIds (GRCh37): ENSG00000153922
OMIM: 602118, Gene2Phenotype
CHD1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Phenotype is appropriate for the panel, but insufficient cases to support causation (ID only reported in two sibs). Therefore rated Amber, awaiting further publications/clinical evidence.
Created: 3 Aug 2020, 1:48 p.m. | Last Modified: 3 Aug 2020, 1:48 p.m.
Panel Version: 3.223
Gene is associated with Pilarowski-Bjornsson syndrome in OMIM, but not in G2P.

Pilarowski et al (2018) (PMID: 28866611) reported heterozygous missense variants in five individuals (two sibs and three singletons) as the cause of developmental delay, speech apraxia, hypotonia, and facial dysmorphic features. Two variants were confirmed de novo, while segregation for others could not be determined (including the two sibs who were conceived by egg donor). Developmental delay was noted for all participants; however, ID was only reported in the two sibs. Further insight may be gained from re-evaluation of the two patients in the present study who were too young for a formal neurocognitive evaluation at the time of publication.
Created: 3 Aug 2020, 1:44 p.m. | Last Modified: 3 Aug 2020, 1:49 p.m.
Panel Version: 3.223

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated individuals with heterozygous variants reported. Possible dominant negative mechanism: reported variants are missense, and an individual with a deletion did not have a neurological phenotype.
Sources: Expert list
Created: 1 Feb 2020, 3:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pilarowski-Bjornsson syndrome, MIM#617682

Publications

Mode of pathogenicity
Other

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 Amber
Phenotypes
  • Pilarowski-Bjornsson syndrome, MIM#617682
OMIM
602118
Clinvar variants
Variants in CHD1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: chd1 has been classified as Amber List (Moderate Evidence).

1 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CHD1 was added gene: CHD1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD1 were set to 28866611 Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682 Mode of pathogenicity for gene: CHD1 was set to Other Review for gene: CHD1 was set to GREEN gene: CHD1 was marked as current diagnostic