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Prepair 1000+

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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The DCHS1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant condition is AR Van Maldergem syndrome 1, due to loss-of-function variants.

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: 8 Jan 2025, 4:54 a.m. | Last Modified: 8 Jan 2025, 4:54 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van Maldergem syndrome 1 MIM# 601390

Publications

Created: 8 Jan 2025, 4:54 a.m.
Last Modified: 8 Jan 2025, 4:54 a.m.
Panel version: 1.992

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Van Maldergem syndrome 1, 601390 (3)
OMIM
603057
Clinvar variants
Variants in DCHS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, 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).

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCHS1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCHS1 was added gene: DCHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390 (3)