Deafness_IsolatedAndComplex
Gene: PNPT1
Additional case of 3 sibs presenting with non syndromic hearing loss in childhood with neurdegenerative phenotype in 40's/50'sCreated: 6 Jul 2020, 11:13 a.m. | Last Modified: 6 Jul 2020, 11:13 a.m.
Panel Version: 0.358
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Comment when marking as ready: Evidence for gene-disease association rated as LIMITED by ClinGen. However, note deafness is also a feature of the multi-system, Leigh-like disorder caused by bi-allelic PNPT1 variants and therefore rated as Green.Created: 28 Jan 2020, 10:59 p.m. | Last Modified: 28 Jan 2020, 10:59 p.m.
Panel Version: 0.249
Single family with homozygous variant in this gene reported initially associating gene with deafness. However, note that gene can also cause a Leigh-like multi system disorder, and in a recent cohort, deafness was a feature in ~40% of affected individuals.Created: 28 Jan 2020, 10:55 p.m. | Last Modified: 28 Jan 2020, 10:55 p.m.
Panel Version: 0.246
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Publications
Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPT1 were set to 23084290; 31752325
Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934 to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Gene: pnpt1 has been classified as Green List (High Evidence).
Publications for gene: PNPT1 were set to
Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Mode of inheritance for gene: PNPT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: pnpt1 has been classified as Green List (High Evidence).
Gene: pnpt1 has been classified as Red List (Low Evidence).
gene: PNPT1 was added gene: PNPT1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: PNPT1 was set to Unknown