Microcephaly
Gene: ANKLE2EnsemblGeneIds (GRCh38): ENSG00000176915
EnsemblGeneIds (GRCh37): ENSG00000176915
OMIM: 616062, Gene2Phenotype
ANKLE2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families reported, two share the same homozygous variant. Functional data.Created: 30 Aug 2020, 5:36 a.m. | Last Modified: 30 Aug 2020, 5:36 a.m.
Panel Version: 0.158
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 16, primary, autosomal recessive, MIM# 616681
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Microcephaly 16, primary, autosomal recessive, MIM# 616681
- OMIM
- 616062
- Clinvar variants
- Variants in ANKLE2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ankle2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ANKLE2 were changed from to Microcephaly 16, primary, autosomal recessive, MIM# 616681
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ANKLE2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ANKLE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ANKLE2 was added gene: ANKLE2 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANKLE2 was set to Unknown