Macrocephaly_Megalencephaly
Gene: WDFY3EnsemblGeneIds (GRCh38): ENSG00000163625
EnsemblGeneIds (GRCh37): ENSG00000163625
OMIM: 617485, Gene2Phenotype
WDFY3 is in 6 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
De novo (And 2x inherited from similarly affected parent) variants reported in individuals described to have macrocephaly, mostly PTCs and missense not in the PH domain (where microcephaly variants are reported) .
But OFC doesn't sound very macro (5/9 >97th percentile and 4/9 between 87th and 95th percentiles).
Het +/- mice displayed megalencephaly
Sources: LiteratureCreated: 6 Jan 2022, 4:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with macrocephaly
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with macrocephaly
- OMIM
- 617485
- Clinvar variants
- Variants in WDFY3
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdfy3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdfy3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: WDFY3 was added gene: WDFY3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDFY3 were set to 31327001 Phenotypes for gene: WDFY3 were set to Neurodevelopmental disorder with macrocephaly Penetrance for gene: WDFY3 were set to unknown Review for gene: WDFY3 was set to AMBER gene: WDFY3 was marked as current diagnostic