1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. AMH
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: AMH

Amber List (moderate evidence)
AMH (anti-Mullerian hormone)
EnsemblGeneIds (GRCh38): ENSG00000104899
EnsemblGeneIds (GRCh37): ENSG00000104899
OMIM: 600957, Gene2Phenotype
AMH is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Bi-allelic variants are associated with persistent Mullerian duct syndrome (phenotypically male). Report of three unrelated individuals with rare missense variants and POI but insufficient evidence to establish gene-disease association conclusively.
Created: 11 Dec 2020, 10:03 a.m. | Last Modified: 11 Dec 2020, 10:03 a.m.
Panel Version: 0.159

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insuffiency

Publications

Created: 11 Dec 2020, 10:03 a.m.
Last Modified: 11 Dec 2020, 10:03 a.m.
Panel version: 0.159

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Primary ovarian insuffiency
OMIM
600957
Clinvar variants
Variants in AMH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amh has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMH were changed from to Primary ovarian insuffiency

11 Dec 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AMH were set to

11 Dec 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AMH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amh has been classified as Amber List (Moderate Evidence).

17 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: AMH was added gene: AMH was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AMH was set to