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Mendeliome v1.759 SLC25A36 Bryony Thompson Marked gene: SLC25A36 as ready
Mendeliome v1.759 SLC25A36 Bryony Thompson Gene: slc25a36 has been classified as Green List (High Evidence).
Mendeliome v1.759 SLC25A36 Bryony Thompson Classified gene: SLC25A36 as Green List (high evidence)
Mendeliome v1.759 SLC25A36 Bryony Thompson Gene: slc25a36 has been classified as Green List (High Evidence).
Mendeliome v1.697 SLC25A36 Krithika Murali gene: SLC25A36 was added
gene: SLC25A36 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A36 were set to 34971397; 34576089; 31036718
Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Review for gene: SLC25A36 was set to GREEN
Added comment: Solute carrier family 25 members 33 (SLC25A33) and 36 (SLC25A36) are the only known mitochondrial pyrimidine nucleotide carriers in humans

PMID: 34971397 Sharoor et al 2022 report 2 siblings with hyperinsulinism, hypoglycemia and hyperammonemia from early infancy with homozygous SLC25A36 c.284 + 3 A > T variant identified through WES. Functional studies support LoF.

PMID: 34576089 report a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. WES identified SLC25A36 gene homozygous c.803dupT, p.Ser269llefs*35 variant. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with uridine lead to some improvement in clinical course.

PMID: 31036718 deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction
Sources: Literature
Mendeliome v0.12679 SLC25A3 Zornitza Stark Marked gene: SLC25A3 as ready
Mendeliome v0.12679 SLC25A3 Zornitza Stark Gene: slc25a3 has been classified as Green List (High Evidence).
Mendeliome v0.12679 SLC25A3 Zornitza Stark Publications for gene: SLC25A3 were set to
Mendeliome v0.12678 SLC25A3 Zornitza Stark Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773
Mendeliome v0.12677 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12676 SLC25A3 Zornitza Stark reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4437 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Mendeliome v0.4437 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mendeliome v0.4437 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Mendeliome v0.4436 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Mendeliome v0.4435 SLC25A38 Zornitza Stark Mode of inheritance for gene: SLC25A38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4434 SLC25A38 Zornitza Stark reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: 19412178; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1745 SLC25A32 Zornitza Stark Marked gene: SLC25A32 as ready
Mendeliome v0.1745 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mendeliome v0.1745 SLC25A32 Zornitza Stark Classified gene: SLC25A32 as Green List (high evidence)
Mendeliome v0.1745 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mendeliome v0.1744 SLC25A32 Zornitza Stark gene: SLC25A32 was added
gene: SLC25A32 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive, MIM# 616839
Review for gene: SLC25A32 was set to GREEN
Added comment: Two unrelated families reported with functional data. Muscle biopsy showed ragged-red fibers and lipid storage mainly in type I oxidative fibers, small type II fibers, and poor immunostaining for succinate dehydrogenase (FAD-dependent mitochondrial respiratory chain complex II). Oral supplementation with riboflavin led to dramatic improvement in the clinical and biologic abnormalities.
Sources: Expert list
Mendeliome v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A38 was set to Unknown
Mendeliome v0.0 SLC25A3 Zornitza Stark gene: SLC25A3 was added
gene: SLC25A3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A3 was set to Unknown