Lysosomal Storage Disorder
Gene: SGMS1EnsemblGeneIds (GRCh38): ENSG00000198964
EnsemblGeneIds (GRCh37): ENSG00000198964
OMIM: 611573, Gene2Phenotype
SGMS1 is in 2 panels
1 review
Mark Cleghorn (Royal Melbourne Hospital)
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ESHG presentation 4/6/24, unpublished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: OtherCreated: 9 Sep 2024, 5:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex neurodevelopmental disorder MONDO:0100038
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- complex neurodevelopmental disorder MONDO:0100038
- OMIM
- 611573
- Clinvar variants
- Variants in SGMS1
- Penetrance
- unknown
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Mark Cleghorn (Royal Melbourne Hospital)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