Cerebellar hypoplasia
Gene: PRDM13Comment 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
Phenotypes for gene: PRDM13 were changed from Cerebellar hypoplasia to Pontocerebellar hypoplasia, type 17, OMIM:619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761
Gene: prdm13 has been classified as Green List (High Evidence).
gene: PRDM13 was added gene: PRDM13 was added to Cerebellar hypoplasia. Sources: 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 Cerebellar hypoplasia Review for gene: PRDM13 was set to GREEN