1. Panels
  2. Leukodystrophy - paediatric
  3. DEGS1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - paediatric

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hypomyelinating leukodystorphy is the prominent feature of this condition.
Sources: Expert list
Created: 18 Jan 2020, 4:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 18 618404

Created: 18 Jan 2020, 4:09 a.m.

Panel version: 0.13

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

20 individuals from 14 unrelated families.
Sources: Literature
Created: 14 Dec 2019, 9:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 18, MIM#618404

Publications

Created: 14 Dec 2019, 9:45 a.m.

Panel version: Imported from Leukodystrophy panel version 0.11

Details

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

History Filter Activity

18 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DEGS1 was added gene: DEGS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18 618404 Review for gene: DEGS1 was set to GREEN