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Undiagnosed metabolic disorders v1.517 PNPT1 Arina Puzriakova Phenotypes for gene: PNPT1 were changed from Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934; respiratory chain disorder; hearing loss to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Deafness, autosomal recessive 70, OMIM:614934; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Undiagnosed metabolic disorders v1.243 PNP Sarah Leigh Publications for gene: PNP were set to 27604308
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.241 PNP Sarah Leigh Added comment: Comment on phenotypes: Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism);SCID
Undiagnosed metabolic disorders v1.241 PNP Sarah Leigh Phenotypes for gene: PNP were changed from Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism); SCID to Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Undiagnosed metabolic disorders v1.240 PNP Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders PNPO Sarah Leigh marked PNPO as ready
Undiagnosed metabolic disorders PNPO Sarah Leigh commented on PNPO
Undiagnosed metabolic disorders PNP Sarah Leigh commented on PNP
Undiagnosed metabolic disorders PNP Sarah Leigh reviewed PNP