Differences of Sex Development
Gene: MAP3K1EnsemblGeneIds (GRCh38): ENSG00000095015
EnsemblGeneIds (GRCh37): ENSG00000095015
OMIM: 600982, Gene2Phenotype
MAP3K1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three families reported in partial or complete gonadal dysgenesis and monoallelic MAP3K1 variants.Created: 17 May 2022, 8:30 a.m. | Last Modified: 17 May 2022, 8:30 a.m.
Panel Version: 0.258
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
46XY sex reversal 6 (MIM#613762)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- 46XY sex reversal 6 (MIM#613762)
- OMIM
- 600982
- Clinvar variants
- Variants in MAP3K1
- 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: map3k1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MAP3K1 were changed from to 46XY sex reversal 6 (MIM#613762)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MAP3K1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MAP3K1 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: MAP3K1 was added gene: MAP3K1 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAP3K1 was set to Unknown