Macrocephaly_Megalencephaly
Gene: TAOK1EnsemblGeneIds (GRCh38): ENSG00000160551
EnsemblGeneIds (GRCh37): ENSG00000160551
OMIM: 610266, Gene2Phenotype
TAOK1 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575
Sue White (Victorian Clinical Genetics Services)
8 individuals reported with nonspecific ID phenotype with hypotonia. 3 patients had macrocephaly.Created: 19 Aug 2020, 12:48 a.m. | Last Modified: 19 Aug 2020, 12:48 a.m.
Panel Version: 0.42
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575
- Intellectual disability
- macrocephaly
- OMIM
- 610266
- Clinvar variants
- Variants in TAOK1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TAOK1 were changed from Intellectual disability; macrocephaly to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Intellectual disability; macrocephaly
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taok1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TAOK1 were changed from to Intellectual disability; macrocephaly
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TAOK1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TAOK1 was added gene: TAOK1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TAOK1 was set to Unknown