Regression
Gene: NUP62
PMID 16786527 Basel-Vannegaite et al 2009 Ann Neurol - report homozygous variant in 12 affected individuals from 8 Israeli Bedouin families (all bear same surname). Regression an associated feature.
No further studies.Created: 28 Mar 2022, 6:28 a.m. | Last Modified: 28 Mar 2022, 6:28 a.m.
Panel Version: 0.462
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Striatonigral degeneration, infantile - MIM#271930
Publications
Multiple affected individuals, variable age of onset, may be after a viral trigger.
Sources: Expert ReviewCreated: 8 Dec 2019, 4:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Striatonigral degeneration, infantile, MIM#271930
Publications
Gene: nup62 has been classified as Amber List (Moderate Evidence).
Tag founder tag was added to gene: NUP62.
Gene: nup62 has been classified as Green List (High Evidence).
Gene: nup62 has been classified as Green List (High Evidence).
Gene: nup62 has been classified as Red List (Low Evidence).
gene: NUP62 was added gene: NUP62 was added to Regression_VCGS. Sources: Expert Review Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 16786527 Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, MIM#271930 Review for gene: NUP62 was set to GREEN