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Date	Panel	Item	Activity
Filter activities 13 actions
11 Oct 2023	Likely inborn error of metabolism v4.51	LETM1	Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: LETM1.
11 Oct 2023	Likely inborn error of metabolism v4.51	LETM1	Arina Puzriakova reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Likely inborn error of metabolism v4.50	LETM1	Achchuthan Shanmugasundram Source NHS GMS was added to LETM1. Source Expert Review Green was added to LETM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
08 Aug 2023	Likely inborn error of metabolism v4.44	LETM1	Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene. PMID: 36055214 reports 12 LETM1 variants in 11 unrelated cases of Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (OMIM: 620089), together with supportive functional studies.; to: 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).
18 May 2023	Likely inborn error of metabolism v4.35	LETM1	Sarah Leigh Classified gene: LETM1 as Amber List (moderate evidence)
18 May 2023	Likely inborn error of metabolism v4.35	LETM1	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
18 May 2023	Likely inborn error of metabolism v4.35	LETM1	Sarah Leigh Gene: letm1 has been classified as Amber List (Moderate Evidence).
18 May 2023	Likely inborn error of metabolism v4.34	LETM1	Sarah Leigh reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
09 May 2023	Likely inborn error of metabolism v4.34	LETM1	Sarah Leigh Tag Q2_23_promote_green tag was added to gene: LETM1.
09 May 2023	Likely inborn error of metabolism v4.34	LETM1	Sarah Leigh Mode of inheritance for gene: LETM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 May 2023	Likely inborn error of metabolism v4.33	LETM1	Sarah Leigh Phenotypes for gene: LETM1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
09 May 2023	Likely inborn error of metabolism v4.32	LETM1	Sarah Leigh Publications for gene: LETM1 were set to
16 Dec 2018	Likely inborn error of metabolism v0.4	LETM1	Ellen McDonagh gene: LETM1 was added gene: LETM1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LETM1 was set to Unknown Phenotypes for gene: LETM1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)