Differences of Sex Development
Gene: AMHR2EnsemblGeneIds (GRCh38): ENSG00000135409
EnsemblGeneIds (GRCh37): ENSG00000135409
OMIM: 600956, Gene2Phenotype
AMHR2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Summary table review describes >90 PMDS patients.Created: 5 Dec 2024, 12:47 p.m. | Last Modified: 5 Dec 2024, 12:47 p.m.
Panel Version: 0.326
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Persistent Mullerian duct syndrome, type II MIM#261550
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Persistent Mullerian duct syndrome, type II MIM#261550
- OMIM
- 600956
- Clinvar variants
- Variants in AMHR2
- 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: amhr2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AMHR2 were changed from to Persistent Mullerian duct syndrome, type II MIM#261550
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AMHR2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: AMHR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AMHR2 was added gene: AMHR2 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMHR2 was set to Unknown