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  3. DEGS1
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Hereditary Neuropathy - complex

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)

Comment on list classification: Complex phenotype including neuropathy
Created: 23 Mar 2020, 2:54 a.m. | Last Modified: 23 Mar 2020, 2:54 a.m.
Panel Version: 0.9
Created: 23 Mar 2020, 2:54 a.m.
Last Modified: 23 Mar 2020, 2:54 a.m.
Panel version: 0.9

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Demyelinating neuropathy is a feature of this leukodystrophy.
Sources: Expert list
Created: 22 Jan 2020, 12:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy hypomyelinating 18, MIM#618404; demyelinating neuropathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jan 2020, 12:59 a.m.

Panel version: Imported from Peripheral Neuropathy_CMT panel version 0.14

Details

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

History Filter Activity

23 Mar 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).

23 Mar 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).

23 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: DEGS1 was added gene: DEGS1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert list Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: DEGS1 was set to GREEN