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Intellectual disability

Gene: PRDM13

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
Created: 30 Jan 2023, 5:50 p.m.
Last Modified: 30 Jan 2023, 5:50 p.m.
Panel version: 4.53

Ivone Leong (Genomics England Curator)

Green List (high evidence)

New publication. 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). Individuals were also reported to have severe global developmental delay. Therefore this gene should be rated Green.
Created: 28 Jul 2022, 3:41 p.m. | Last Modified: 28 Jul 2022, 3:41 p.m.
Panel Version: 3.1635
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

Publications

Created: 28 Jul 2022, 3:20 p.m.
Last Modified: 28 Jul 2022, 3:20 p.m.
Copied from panel: Disorders of sex development v2.65

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.

Copied from panel: Disorders of sex development v2.65

Details

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

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: PRDM13.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to PRDM13. Source Expert Review Green was added to PRDM13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Oct 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PRDM13 were set to 34730112

28 Jul 2022, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: PRDM13.

28 Jul 2022, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: PRDM13 was added gene: PRDM13 was added to Intellectual disability. Sources: Expert Review Amber,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; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761