Intellectual disability update Jan 2018
Gene: NIPA1

NIPA1 (non imprinted in Prader-Willi/Angelman syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000170113
EnsemblGeneIds (GRCh37): ENSG00000170113
OMIM: 608145, Gene2Phenotype
NIPA1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Internal clinical review confirmed Red status for this gene on this panel. It was noted that although NIPA1 is commonly deleted in a recurrent neuro-susceptibility locus, we do not have evidence for causation for it alone.
Created: 26 Feb 2018, 5:38 p.m.

Comment on list classification: Changed gene from status Amber to Red, the variants of NIPA1 cause a movement disorder phenotype, intellectual disability is not a feature. Gene on ID panel possibility due to ID being associated to duplications or micordeletions in particular region is characterized by low mental retardation, autism, developmental delay. PMID: 27577220, 24123946
Created: 26 Feb 2018, 3:12 p.m.

Comment on publications: added publications to support Spastic paraplegia 6 phenotype.
Created: 26 Feb 2018, 2:55 p.m.

Comment on phenotypes: added phenotype from OMIM and Orphanet
Created: 26 Feb 2018, 2:43 p.m.

Created: 26 Feb 2018, 2:43 p.m.

Panel version: 0.123

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Spastic paraplegia 6, autosomal dominant, 600363
Non Imprinted In Prader-Willi/Angelman Syndrome 1

OMIM

608145

Clinvar variants

Variants in NIPA1

Penetrance

None

Publications

Panels with this gene