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  3. PRDM13
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Differences in sex development

Gene: PRDM13

Amber List (moderate evidence)
PRDM13 (PR/SET domain 13)
EnsemblGeneIds (GRCh38): ENSG00000112238
EnsemblGeneIds (GRCh37): ENSG00000112238
OMIM: 616741, Gene2Phenotype
PRDM13 is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on publications: New publication: 35390279.
Publication reported eight individuals from four families of different origins with loss-of-function PRDM13 variants. Phenotypic findings included cerebellar hypoplasia and perinatal lethality associated with severe brainstem dysfunctions (e.g., feeding and respiratory difficulties, central apnea, bradycardia). The patients were too young to determine if disorders of sexual development was present. Therefore gene should still stay Amber.
Created: 28 Jul 2022, 3:39 p.m. | Last Modified: 28 Jul 2022, 3:39 p.m.
Panel Version: 2.66
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. Based on the expert review and evidence there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 28 Jul 2022, 3:20 p.m. | Last Modified: 28 Jul 2022, 3:20 p.m.
Panel Version: 2.65
Created: 28 Jul 2022, 3:20 p.m.
Last Modified: 28 Jul 2022, 3:20 p.m.
Panel version: 2.65

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

Created: 3 Feb 2022, 9 a.m.

Panel version: 2.55

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital hypogonadotropic hypogonadism, MONDO:0015770
  • Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761
Tags
watchlist
OMIM
616741
Clinvar variants
Variants in PRDM13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2022, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: PRDM13.

28 Jul 2022, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PRDM13 were set to 34730112

28 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: prdm13 has been classified as Amber List (Moderate Evidence).

28 Jul 2022, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PRDM13 were changed from congenital hypogonadotropic hypogonadism, MONDO:0015770 to congenital hypogonadotropic hypogonadism, MONDO:0015770; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761

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