Microcephaly
Gene: WNK3EnsemblGeneIds (GRCh38): ENSG00000196632
EnsemblGeneIds (GRCh37): ENSG00000196632
OMIM: 300358, Gene2Phenotype
WNK3 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Prieto syndrome, MIM# 309610
Lucy Spencer (Victorian Clinical Genetics Services)
6 individuals with microcephaly all at -2 to -2.4SD so leaving as amber for now. Individuals also had ID and other features
Sources: LiteratureCreated: 14 Jul 2022, 1:38 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Neurodevelopmental disorder, WNK3-related (MONDO#0700092)
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Prieto syndrome, MIM# 309610
- OMIM
- 300358
- Clinvar variants
- Variants in WNK3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WNK3 were changed from Neurodevelopmental disorder, WNK3-related (MONDO#0700092) to Prieto syndrome, MIM# 309610
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnk3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnk3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lucy Spencer (Victorian Clinical Genetics Services)gene: WNK3 was added gene: WNK3 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WNK3 were set to 35678782 Phenotypes for gene: WNK3 were set to Neurodevelopmental disorder, WNK3-related (MONDO#0700092)