Ataxia and cerebellar anomalies - narrow panel
Gene: PRDM13
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
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
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
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
Tag Q3_22_rating was removed from gene: PRDM13.
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)
Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: PRDM13.
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