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  3. CHD1
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Ectodermal Dysplasia

Gene: CHD1

Red List (low evidence)
CHD1 (chromodomain helicase DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000153922
EnsemblGeneIds (GRCh37): ENSG00000153922
OMIM: 602118, Gene2Phenotype
CHD1 is in 6 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Translucent skin is only ectodermal feature reported. No dental/hair issues
Created: 21 Jan 2022, 6:04 a.m. | Last Modified: 21 Jan 2022, 6:04 a.m.
Panel Version: 0.65
Created: 21 Jan 2022, 6:04 a.m.
Last Modified: 21 Jan 2022, 6:04 a.m.
Panel version: 0.65

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Phenotype includes at least two ectodermal structures: translucent skin and cranial-facial feature. >3 cases with mostly de novo variants.
Sources: Expert list
Created: 10 Mar 2020, 9:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pilarowski-Bjornsson syndrome MIM#617682

Publications

Created: 10 Mar 2020, 9:19 a.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pilarowski-Bjornsson syndrome MIM#617682
OMIM
602118
Clinvar variants
Variants in CHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: chd1 has been classified as Red List (Low Evidence).

10 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chd1 has been classified as Green List (High Evidence).

10 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chd1 has been classified as Green List (High Evidence).

10 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CHD1 was added gene: CHD1 was added to Ectodermal Dysplasia_RMH. 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 Review for gene: CHD1 was set to GREEN