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  2. Intellectual disability syndromic and non-syndromic
  3. PRDM13
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Intellectual disability syndromic and non-syndromic

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

3 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, 12:29 p.m. | Last Modified: 15 Jun 2022, 12:29 p.m.
Panel Version: 0.4823

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 1 Jun 2022, 7:23 a.m.
Last Modified: 1 Jun 2022, 7:23 a.m.
Panel version: 0.4823

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 and pronounced deficits in cognitive and motor development. Homozygous PTC variants were present in the most severely affected individuals.
Created: 5 May 2022, 1:57 a.m. | Last Modified: 5 May 2022, 1:57 a.m.
Panel Version: 0.4741

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 5 May 2022, 1:57 a.m.
Last Modified: 5 May 2022, 1:57 a.m.
Panel version: 0.4741

Seb Lunke (Victorian Clinical Genetics Services)

I don't know

Comment on list classification: Potential founder variant?
Created: 7 Jan 2022, 3:32 a.m. | Last Modified: 7 Jan 2022, 3:32 a.m.
Panel Version: 0.4417
Recessive disease causing ID and DSD described in three supposedly unrelated families (2 consanguine), but all are from Malta, and all share the same 13bp deletion spanning an exon-intron boundary. 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 at P21.
Sources: Literature
Created: 7 Jan 2022, 3:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia

Publications

Created: 7 Jan 2022, 3:30 a.m.

Panel version: 0.4416

Details

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

History Filter Activity

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 intellectual disability, MONDO:0001071, PRDM13-associated; Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761

5 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to intellectual disability, MONDO:0001071, PRDM13-associated; Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; congenital hypogonadotropic hypogonadism, MONDO:0015770

5 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRDM13 were set to 34730112

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).

7 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770

7 Jan 2022, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: PRDM13.

7 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

7 Jan 2022, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia to intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770

7 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

7 Jan 2022, Gel status: 1

Removed Tag

Seb Lunke (Victorian Clinical Genetics Services)

Tag founder was removed from gene: PRDM13.

7 Jan 2022, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: PRDM13 was added gene: PRDM13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature founder tags were added to gene: PRDM13. 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 intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia Review for gene: PRDM13 was set to AMBER