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Mendeliome

Gene: AMHR2

Green List (high evidence)

AMHR2 (anti-Mullerian hormone receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000135409
EnsemblGeneIds (GRCh37): ENSG00000135409
OMIM: 600956, Gene2Phenotype
AMHR2 is in 3 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 34810374 - 3 chet (5 missense, 1 splice) unrelated patients with Persistent Müllerian duct syndrome and elevated AMH. Summary table review describes >90 PMDS patients with chet/hom PTCs, canonical splice etc.
Created: 4 Apr 2022, 3:40 a.m. | Last Modified: 4 Apr 2022, 3:40 a.m.
Panel Version: 0.12514

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

4 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: amhr2 has been classified as Green List (High Evidence).

4 Apr 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AMHR2 were changed from to Persistent Mullerian duct syndrome, type II MIM#261550

4 Apr 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: AMHR2 were set to

4 Apr 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: AMHR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMHR2 was set to Unknown