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Intellectual disability syndromic and non-syndromic

Gene: DEGS1

Green List (high evidence)

DEGS1 (delta 4-desaturase, sphingolipid 1)
EnsemblGeneIds (GRCh38): ENSG00000143753
EnsemblGeneIds (GRCh37): ENSG00000143753
OMIM: 615843, Gene2Phenotype
DEGS1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple affected families, DD/ID is part of the phenotype.
Sources: Expert list
Created: 22 Jan 2020, 12:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy hypomyelinating 18, MIM#618404

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy hypomyelinating 18, MIM#618404
OMIM
615843
Clinvar variants
Variants in DEGS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: degs1 has been classified as Green List (High Evidence).

22 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: degs1 has been classified as Green List (High Evidence).

22 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DEGS1 was added gene: DEGS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338 Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404 Review for gene: DEGS1 was set to GREEN