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| Cerebellar hypoplasia v1.64 | PRDM13 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.63 | PRDM13 | Ivone Leong Classified gene: PRDM13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.63 | PRDM13 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.63 | PRDM13 | Ivone Leong Gene: prdm13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.62 | PRDM13 |
Julia Baptista 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 Added comment: 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: Literature |
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