Bilateral congenital or childhood onset cataracts

Gene: TMEM70

Comment 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.

I don't know

Can only find published evidence for 2 separate cases with cataracts as a feature - in other publications cataracts may not have been looked for

Created: 25 May 2016, 8:11 a.m.

Mode of inheritance
Unknown

Phenotypes
Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy

Publications

• Atay et al (2013) Gene 515:197-9
• Spiegel et al(2011) J. Med. Genet. 48: 177-182

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