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  3. AMH
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Differences of Sex Development

Gene: AMH

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

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment when marking as ready: 64 different alleles have been discovered in 79 families. There is a common 27-bp deletion in the kinase domain in caucasians.
Created: 2 Mar 2021, 9:58 a.m. | Last Modified: 2 Mar 2021, 9:58 a.m.
Panel Version: 0.192
Created: 2 Mar 2021, 9:58 a.m.
Last Modified: 2 Mar 2021, 9:58 a.m.
Panel version: 0.192

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple reports of individuals with Persistent Mullerian duct syndrome.
Created: 2 Mar 2021, 1:46 a.m. | Last Modified: 2 Mar 2021, 1:46 a.m.
Panel Version: 0.189

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Persistent Mullerian duct syndrome, type I (MIM#261550)

Publications

Created: 2 Mar 2021, 1:46 a.m.
Last Modified: 2 Mar 2021, 1:46 a.m.
Panel version: 0.189

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Persistent Mullerian duct syndrome, type I (MIM#261550)
Tags
founder
OMIM
600957
Clinvar variants
Variants in AMH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: AMH.

2 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Mar 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: AMH were changed from to Persistent Mullerian duct syndrome, type I (MIM#261550)

2 Mar 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: AMH were set to

2 Mar 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: AMH 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: AMH was added gene: AMH was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMH was set to Unknown