Ataxia and cerebellar anomalies - narrow panel
Gene: PRDM13EnsemblGeneIds (GRCh38): ENSG00000112238
EnsemblGeneIds (GRCh37): ENSG00000112238
OMIM: 616741, Gene2Phenotype
PRDM13 is in 6 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Arina Puzriakova (Genomics England Curator)
Comment on list classification: This gene should be promoted to Green at the next GMS panel update.Created: 23 Aug 2022, 9:54 a.m. | Last Modified: 23 Aug 2022, 9:54 a.m.
Panel Version: 2.302
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Julia Baptista (Faculty of Health, University of Plymouth). There is enough evidence to support a gene-disease association. Therefore this gene has been given a Green rating.Created: 28 Jul 2022, 3:43 p.m. | Last Modified: 28 Jul 2022, 3:43 p.m.
Panel Version: 1.63
Julia Baptista (Faculty of Health, University of Plymouth)
Coolen and colleagues (PMID:35390279) 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).
Whittaker et al (PMID: 34730112) had previously described two families from Malta with a homozygous PRDM13 deletion and intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty
Sources: LiteratureCreated: 10 May 2022, 5:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Pontocerebellar hypoplasia, type 17, OMIM:619909
- 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
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_rating was removed from gene: PRDM13.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to PRDM13. Source NHS GMS was added to PRDM13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating tag was added to gene: PRDM13.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PRDM13 was added gene: PRDM13 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green,Literature Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM13 were set to 35390279; 34730112 Phenotypes for gene: PRDM13 were set to Pontocerebellar hypoplasia, type 17, OMIM:619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761