Callosome
Gene: SUPT16HEnsemblGeneIds (GRCh38): ENSG00000092201
EnsemblGeneIds (GRCh37): ENSG00000092201
OMIM: 605012, Gene2Phenotype
SUPT16H is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV.
Sources: LiteratureCreated: 11 Mar 2020, 1 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480; Intellectual disability; Abnormality of the corpus callosum
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480
- Intellectual disability
- Abnormality of the corpus callosum
- OMIM
- 605012
- Clinvar variants
- Variants in SUPT16H
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SUPT16H were changed from Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480; Intellectual disability; Abnormality of the corpus callosum
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: supt16h has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: supt16h has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SUPT16H was added gene: SUPT16H was added to Callosome. Sources: Literature Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUPT16H were set to 31924697 Phenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum Review for gene: SUPT16H was set to GREEN