White matter disorders and cerebral calcification - narrow panel
Gene: DEGS1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating at the next GMS review. >3 cases reported with a plausible disease causing variant in DEGS1. Presentation is in young children.Created: 27 Apr 2021, 7:30 p.m. | Last Modified: 27 Apr 2021, 7:30 p.m.
Panel Version: 1.50
Associated with Leukodystrophy, hypomyelinating, 18 #618404 (AR) in OMIM.
PMID: 30620338 - Karsai et al 2019 - identified a missense variant in DEGS1 in a patient with a sphingolipid disorder with leukodystrophy and hypomyelination of the peripheral nervous system. The consanguineous parents were of Turkish origin. Motor developmental delay was first noted at 6 months.
PMID: 30620337 - Pant et al 2019 - report 19 individuals with hypomyelinating leukodystrophies from 13 unrelated families and homozygous or compound heterozygous variants identified in DEGS1 gene. The average age of onset was 5.6 months.
PMID: 31186544 - Dolgin et al 2019 - report a large inbred consanguineous Arab Israeli family in which 4 individuals presented with a complex neurological disorder with mild to severe intellectual disability, spastic quadriplegia, scoliosis and epilepsy. Brain MRI findings were suggestive of leukodystrophy. WES identified a missense variant in DEGS1 that segregated with the disorder. All presented with initial symptoms in early childhood (<2 years old).Created: 27 Apr 2021, 7:28 p.m. | Last Modified: 27 Apr 2021, 7:28 p.m.
Panel Version: 1.47
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 18, OMIM:618404
Publications
20 individuals from 14 unrelated families. Hypomyelinating leukodystorphy is the prominent feature of this condition.
Sources: Expert listCreated: 15 Sep 2020, 10:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 18, MIM#618404
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: DEGS1.
Source NHS GMS was added to DEGS1. Source Expert Review Green was added to DEGS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: degs1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: DEGS1.
Phenotypes for gene: DEGS1 were changed from Leukodystrophy, hypomyelinating, 18, MIM#618404 to Leukodystrophy, hypomyelinating, 18, OMIM:618404
Publications for gene: DEGS1 were set to 30620338; 30620337
gene: DEGS1 was added gene: DEGS1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEGS1 were set to 30620338; 30620337 Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18, MIM#618404 Review for gene: DEGS1 was set to GREEN gene: DEGS1 was marked as current diagnostic