Lipodystrophy_Lipoatrophy
Gene: SUPT7LEnsemblGeneIds (GRCh38): ENSG00000119760
EnsemblGeneIds (GRCh37): ENSG00000119760
OMIM: 612762, Gene2Phenotype
SUPT7L is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
1 case with generalised lipodystrophy, growth retardation, congenital cataracts, severe developmental delay and progeriod features. Trio WGS identified compound heterozygous variants in SUPT7L (missense causing abnormal splicing + frameshift). Variants validated with Sanger. SUPT7L encodes a component of the core structural module of the STAGA complex - a nuclear multifunctional protein complex that plays a role in various cellular processes (e.g. transcription factor binding, protein acetylation, splicing, and DNA damage control). Immunolabelling in fibroblasts from patient showed complete absence of SUPT7L protein. Transcriptome data from individual revealed downregulation of several gene sets associated with DNA replication, DNA repair, cell cycle, and transcription.
Sources: LiteratureCreated: 29 Apr 2024, 9:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
lipodystrophy, MONDO:0006573
Publications
- PMID: 38592547
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- lipodystrophy, MONDO:0006573, SUPT7L-related
- OMIM
- 612762
- Clinvar variants
- Variants in SUPT7L
- Penetrance
- None
- Publications
-
- PMID: 38592547
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: supt7l has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SUPT7L were changed from lipodystrophy, MONDO:0006573 to lipodystrophy, MONDO:0006573, SUPT7L-related
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SUPT7L was added gene: SUPT7L was added to Lipodystrophy_Lipoatrophy. Sources: Literature Mode of inheritance for gene: SUPT7L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUPT7L were set to PMID: 38592547 Phenotypes for gene: SUPT7L were set to lipodystrophy, MONDO:0006573 Review for gene: SUPT7L was set to RED