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Fetal anomalies

Gene: TAOK1

Green List (high evidence)

TAOK1 (TAO kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000160551
EnsemblGeneIds (GRCh37): ENSG00000160551
OMIM: 610266, Gene2Phenotype
TAOK1 is in 5 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygous TAOK1 variants associated with developmental delay

PMID 35091509 - complication of polyhydramnios noted in 2 pregnancies in unrelated families

PMID 33565190:
- 1 patient with ventriculomegaly detected 28 week USS and polyhydramnios with secondary complication of multi-suture craniosynostosis
- 1 infant with low birth weight.
- 1 individual - antenatal history includes polyhydramnios at 5 months gestation

PMID 31230721 - report one individual noted to be macrocephalic at birth with cleft palate
Sources: Literature
Created: 28 Feb 2022, 10:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575
OMIM
610266
Clinvar variants
Variants in TAOK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taok1 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taok1 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: TAOK1 was added gene: TAOK1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK1 were set to 35091509; 31230721; 33565190 Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575 Review for gene: TAOK1 was set to GREEN