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  3. PRDM13
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Cerebellar and Pontocerebellar Hypoplasia

Gene: PRDM13

Green List (high evidence)
PRDM13 (PR/SET domain 13)
EnsemblGeneIds (GRCh38): ENSG00000112238
EnsemblGeneIds (GRCh37): ENSG00000112238
OMIM: 616741, Gene2Phenotype
PRDM13 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note only single family reported with MIM#619761. The two disorders likely represent a continuum of severity.
Created: 15 Jun 2022, 12:25 p.m. | Last Modified: 15 Jun 2022, 12:25 p.m.
Panel Version: 1.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761; Pontocerebellar hypoplasia, type 17, MIM# 619909

Publications

Created: 1 Jun 2022, 7:19 a.m.
Last Modified: 1 Jun 2022, 7:19 a.m.
Panel version: 1.51

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35390279 - Biallelic variants identified in multiple individuals from four unrelated families with pontocerebellar hypoplasia, pronounced deficits in cognitive and motor development. Homozygous PTC variants were present in the most severely affected individuals.
Sources: Literature
Created: 5 May 2022, 2:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Intellectual disability (MONDO:0001071)

Publications

Created: 5 May 2022, 2:03 a.m.

Panel version: 1.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 17, MIM# 619909
  • Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
OMIM
616741
Clinvar variants
Variants in PRDM13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRDM13 were set to PMID: 35390279

15 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRDM13 were changed from Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 to Pontocerebellar hypoplasia, type 17, MIM# 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761

1 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRDM13 were changed from Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Intellectual disability (MONDO:0001071) to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm13 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm13 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: PRDM13 was added gene: PRDM13 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM13 were set to PMID: 35390279 Phenotypes for gene: PRDM13 were set to Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Intellectual disability (MONDO:0001071) Review for gene: PRDM13 was set to GREEN