Mitochondrial disease
Gene: MRPS34
LOF provenCreated: 9 Jul 2020, 5:43 a.m. | Last Modified: 9 Jul 2020, 5:43 a.m.
Panel Version: 0.3281
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 32, 61766
Publications
Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophyCreated: 10 Mar 2020, 4:13 a.m. | Last Modified: 10 Mar 2020, 4:13 a.m.
Panel Version: 0.108
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 32, MIM# 617664
Publications
Gene: mrps34 has been classified as Green List (High Evidence).
Phenotypes for gene: MRPS34 were changed from to Combined oxidative phosphorylation deficiency 32, MIM# 617664
Publications for gene: MRPS34 were set to
Mode of inheritance for gene: MRPS34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: MRPS34 was added gene: MRPS34 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MRPS34 was set to Unknown