Angelman Rett like syndromes
Gene: ACTL6BEnsemblGeneIds (GRCh38): ENSG00000077080
EnsemblGeneIds (GRCh37): ENSG00000077080
OMIM: 612458, Gene2Phenotype
ACTL6B is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ten individuals reported with de novo heterozygous variants and intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose). Nine of these ten unrelated individuals had the identical de novo c.1027G>A (p.Gly343Arg) variant.
Note bi-allelic variants cause a neurodevelopmental disorder characterised by epilepsy and spasticity.
Sources: Expert ReviewCreated: 14 Nov 2020, 3:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
- OMIM
- 612458
- Clinvar variants
- Variants in ACTL6B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ACTL6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actl6b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actl6b 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: ACTL6B was added gene: ACTL6B was added to Angelman Rett like syndromes. Sources: Expert Review Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTL6B were set to 31031012 Phenotypes for gene: ACTL6B were set to Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470 Review for gene: ACTL6B was set to GREEN