01 Apr 2022
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)
19 Aug 2019
Undiagnosed metabolic disorders v1.243
PNP
Sarah Leigh Publications for gene: PNP were set to 27604308
19 Aug 2019
Undiagnosed metabolic disorders v1.242
PNP
Sarah Leigh Classified gene: PNP as Green List (high evidence)
19 Aug 2019
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.
19 Aug 2019
Undiagnosed metabolic disorders v1.242
PNP
Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
19 Aug 2019
Undiagnosed metabolic disorders v1.241
PNP
Sarah Leigh Added comment: Comment on phenotypes: Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism);SCID
19 Aug 2019
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
19 Aug 2019
Undiagnosed metabolic disorders v1.240
PNP
Sarah Leigh Deleted their comment
12 Jan 2017
Undiagnosed metabolic disorders
PNPO
Sarah Leigh marked PNPO as ready
12 Jan 2017
Undiagnosed metabolic disorders
PNPO
Sarah Leigh commented on PNPO
06 Jan 2017
Undiagnosed metabolic disorders
PNP
Sarah Leigh commented on PNP
06 Jan 2017
Undiagnosed metabolic disorders
PNP
Sarah Leigh reviewed PNP