Differences of Sex Development
Gene: MAMLD1EnsemblGeneIds (GRCh38): ENSG00000013619
EnsemblGeneIds (GRCh37): ENSG00000013619
OMIM: 300120, Gene2Phenotype
MAMLD1 is in 3 panels
1 review
Teresa Zhao (Victorian Clinical Genetics Services)
Multiple individuals reported with hypospadias
PMID: 26815876: 3’UTR is associated with increased risk of isolated hypospadias in Indian childrenCreated: 12 Jan 2022, 12:04 a.m. | Last Modified: 12 Jan 2022, 12:04 a.m.
Panel Version: 0.234
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypospadias 2 (MIM#300758)
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypospadias 2 (MIM#300758)
- OMIM
- 300120
- Clinvar variants
- Variants in MAMLD1
- 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: mamld1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MAMLD1 were changed from to Hypospadias 2 (MIM#300758)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MAMLD1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MAMLD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MAMLD1 was added gene: MAMLD1 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAMLD1 was set to Unknown