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Intellectual disability syndromic and non-syndromic

Gene: DCHS1

Green List (high evidence)

DCHS1 (dachsous cadherin-related 1)
EnsemblGeneIds (GRCh38): ENSG00000166341
EnsemblGeneIds (GRCh37): ENSG00000166341
OMIM: 603057, Gene2Phenotype
DCHS1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Van Maldergem syndrome is characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Some variable features and onset at birth. Multiple unrelated individuals reported.
Created: 6 May 2022, 7:05 a.m. | Last Modified: 6 May 2022, 7:05 a.m.
Panel Version: 0.4756

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van Maldergem syndrome 1, MIM# 601390

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Van Maldergem syndrome 1, MIM# 601390
OMIM
603057
Clinvar variants
Variants in DCHS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dchs1 has been classified as Green List (High Evidence).

6 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCHS1 were changed from to Van Maldergem syndrome 1, MIM# 601390

6 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCHS1 were set to

6 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DCHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCHS1 was added gene: DCHS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DCHS1 was set to Unknown