Disorders of sex development

Gene: PRDM13

No list

PRDM13 (PR/SET domain 13)
EnsemblGeneIds (GRCh38): ENSG00000112238
EnsemblGeneIds (GRCh37): ENSG00000112238
OMIM: 616741, Gene2Phenotype
PRDM13 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

Recessive disease causing ID and DSD described in three unrelated families (2 consanguineous), but all are from Malta, and all share the same 13bp deletion spanning an exon-intron boundary, so likely founder effect.

Mouse KO is embryonically lethal, and tissue specific KO failed to replicate many of the patients phenotypes, other than hypoplasia of the cerebellar vermis and hemispheres.
Sources: Literature
Created: 3 Feb 2022, 9 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital hypogonadotropic hypogonadism, MONDO:0015770

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • congenital hypogonadotropic hypogonadism, MONDO:0015770
OMIM
616741
Clinvar variants
Variants in PRDM13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PRDM13 was added gene: PRDM13 was added to Disorders of sex development. Sources: Literature Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM13 were set to 34730112 Phenotypes for gene: PRDM13 were set to congenital hypogonadotropic hypogonadism, MONDO:0015770 Review for gene: PRDM13 was set to AMBER