Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Lysosomal Storage Disorder v1.13 SGMS1 Bryony Thompson Marked gene: SGMS1 as ready
Lysosomal Storage Disorder v1.13 SGMS1 Bryony Thompson Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.13 SGMS1 Bryony Thompson Classified gene: SGMS1 as Amber List (moderate evidence)
Lysosomal Storage Disorder v1.13 SGMS1 Bryony Thompson Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.12 SGMS1 Bryony Thompson Classified gene: SGMS1 as Amber List (moderate evidence)
Lysosomal Storage Disorder v1.12 SGMS1 Bryony Thompson Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.11 SGMS1 Mark Cleghorn gene: SGMS1 was added
gene: SGMS1 was added to Lysosomal Storage Disorder. Sources: Other
Mode of inheritance for gene: SGMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGMS1 were set to complex neurodevelopmental disorder MONDO:0100038
Penetrance for gene: SGMS1 were set to unknown
Review for gene: SGMS1 was set to AMBER
Added comment: SGMS1
Johannes Kopp, Charite Berlin
ESHG presentation 4/6/24, unpublished

Biallelic SGMS1 with novel metabolic disorder

Only 2 families (3 cases) reported
NDD, AbN cerebral myelination, SNHL, ichthyosis

Homozygous or compound het SGMS1 missense

Functional work to support role of SGMS1 in sphingolipid metabolism
Sources: Other