Bilateral congenital or childhood onset cataracts
Gene: LETM1
LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).Created: 3 Aug 2023, 10:07 a.m. | Last Modified: 8 Aug 2023, 10:16 a.m.
Panel Version: 3.42
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 3 Aug 2023, 9:16 a.m. | Last Modified: 3 Aug 2023, 9:16 a.m.
Panel Version: 3.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Consensus opinion from the 3 NHSE GMS specialist mitochondrial providers.
Sources: Expert ReviewCreated: 31 Jul 2023, 10:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
Tag Q3_23_NHS_review was removed from gene: LETM1.
gene: LETM1 was added gene: LETM1 was added to Bilateral congenital or childhood onset cataracts. Sources: Expert Review,Expert Review Amber Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1. Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214; 33815143 Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089