Bilateral congenital or childhood onset cataracts
Gene: TMEM70Comment on list classification: Severe infantile phenotype, wouldn't present with isolated cataracts, only 1 consanguinous family with cataracts as part of the condition (may have been caused by a second gene due to consanguinity).Created: 7 Jun 2016, 1:20 p.m.
Can only find published evidence for 2 separate cases with cataracts as a feature - in other publications cataracts may not have been looked forCreated: 25 May 2016, 8:11 a.m.
Mode of inheritance
Unknown
Phenotypes
Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Biallelic for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (source: OMIM and G2P).Created: 6 Jun 2016, 9:18 a.m.
Gene and phenotype added from the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (biallelic inheritance), which includes cataract as a phenotype. More than 3 unrelated cases reported in OMIM related to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2.
Created: 29 Apr 2016, 3:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for TMEM70 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for TMEM70 were set to Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Publications for TMEM70 were set to Atay et al (2013) Gene 515:197-9 (PMID: 23235116); Spiegel et al(2011) J. Med. Genet. 48: 177-182 (PMID: 21147908)
This gene has been classified as Amber List (Moderate Evidence).
TMEM70 was created by ellenmcdonagh
TMEM70 was added to Cataractspanel. Sources: Expert list