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Cerebral Palsy

Gene: PURA

Green List (high evidence)

PURA (purine rich element binding protein A)
EnsemblGeneIds (GRCh38): ENSG00000185129
EnsemblGeneIds (GRCh37): ENSG00000185129
OMIM: 600473, Gene2Phenotype
PURA is in 6 panels

1 review

Clare van Eyk (University of Adelaide)

Green List (high evidence)

PURA loss of function and missense variants cause a clinically variable neurodevelopmental disorder with movement disorders including dystonia and limb spasticity described in some individuals. One case with a novel frameshift deletion described with dyskinetic cerebral palsy and intellectual disability. An additional 3 cases with de novo variants (1 nonsense, 2 missense) reported in a retrospective analysis of a Clinical Laboratory referral cohort with cerebral palsy.
Sources: Literature
Created: 23 Sep 2021, 4:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)
OMIM
600473
Clinvar variants
Variants in PURA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pura has been classified as Green List (High Evidence).

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pura has been classified as Green List (High Evidence).

23 Sep 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Clare van Eyk (University of Adelaide)

gene: PURA was added gene: PURA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PURA were set to PMID: 34077496 Phenotypes for gene: PURA were set to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Review for gene: PURA was set to GREEN