Angelman Rett like syndromes
Gene: HECTD4EnsemblGeneIds (GRCh38): ENSG00000173064
EnsemblGeneIds (GRCh37): ENSG00000173064
HECTD4 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: LiteratureCreated: 30 Nov 2022, 3:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250
- Clinvar variants
- Variants in HECTD4
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder, MONDO:0700092, HECTD4-related to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hectd4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hectd4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HECTD4 was added gene: HECTD4 was added to Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related Review for gene: HECTD4 was set to GREEN