Activity

Filter

Cancel
Date Panel Item Activity
20 actions
Mitochondrial disorders v6.4 SLC25A36 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC25A36.
Tag Q4_23_NHS_review was removed from gene: SLC25A36.
Mitochondrial disorders v6.4 SLC25A36 Sarah Leigh edited their review of gene: SLC25A36: Changed rating: GREEN
Mitochondrial disorders v6.3 SLC25A36 Sarah Leigh reviewed gene: SLC25A36: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v6.2 SLC25A36 Achchuthan Shanmugasundram Source NHS GMS was added to SLC25A36.
Source Expert Review Green was added to SLC25A36.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.127 SLC25A36 Achchuthan Shanmugasundram Classified gene: SLC25A36 as Amber List (moderate evidence)
Mitochondrial disorders v4.127 SLC25A36 Achchuthan Shanmugasundram Gene: slc25a36 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.126 SLC25A36 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A36 were changed from Hyperinsulinemic hypoglycemia, familial, 8 to Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211
Mitochondrial disorders v4.125 SLC25A36 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC25A36.
Tag Q4_23_NHS_review tag was added to gene: SLC25A36.
Mitochondrial disorders v4.125 SLC25A36 Achchuthan Shanmugasundram reviewed gene: SLC25A36: Rating: GREEN; Mode of pathogenicity: None; Publications: 34576089, 34971397, 36695547; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.113 SLC25A36 Hannah Knight gene: SLC25A36 was added
gene: SLC25A36 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A36 were set to 34576089; 34971397; 36695547
Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8
Review for gene: SLC25A36 was set to GREEN
Added comment: More than three cases reported in past three years
PMID: 34576089 (2021) - first case, a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. Homozygous frameshift variant identified c.803dupT, p.Ser269llefs*35
PMID: 34971397 (2022) - two siblings with homozygous splice site variant
PMID: 36695547 (2023) - four individuals of two Bedouin Israeli related families - same homozygous splice site variant identified
Sources: Literature
Mitochondrial disorders v2.103 SLC25A32 Eleanor Williams Tag gene-checked tag was added to gene: SLC25A32.
Mitochondrial disorders v1.363 SLC25A32 Sarah Leigh Phenotypes for gene: SLC25A32 were changed from to ?Exercise intolerance, riboflavin-responsive 616839
Mitochondrial disorders v1.362 SLC25A32 Sarah Leigh Mode of inheritance for gene: SLC25A32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.361 SLC25A32 Sarah Leigh Classified gene: SLC25A32 as Green List (high evidence)
Mitochondrial disorders v1.361 SLC25A32 Sarah Leigh Gene: slc25a32 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.360 SLC25A32 Sarah Leigh commented on gene: SLC25A32
Mitochondrial disorders v1.360 SLC25A32 Sarah Leigh Tag treatable tag was added to gene: SLC25A32.
Mitochondrial disorders v1.360 SLC25A32 Sarah Leigh Publications for gene: SLC25A32 were set to
Mitochondrial disorders v1.293 SLC25A32 Sarah Leigh gene: SLC25A32 was added
gene: SLC25A32 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC25A32 was set to
Mitochondrial disorders SLC25A3 Sarah Leigh classified SLC25A3 as green