Fetal anomalies
Gene: PURA

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Multiple individuals reported with de novo variants in this gene and severe ID, hypotonia, apnoea, seizures.

Typically presents post-natally, but congenital heart disease reported in some.
Created: 7 Mar 2020, 3:45 a.m. | Last Modified: 23 Feb 2022, 1:33 a.m.

Panel Version: 0.3916

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 31, MIM# 616158

Publications

Created: 7 Mar 2020, 3:45 a.m.
Last Modified: 23 Feb 2022, 1:33 a.m.
Panel version: 0.3916

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genomics England PanelApp
Genetic Health Queensland

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

9 Apr 2024, Gel status: 2

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PURA were changed from Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)

9 Apr 2024, Gel status: 2

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PURA were changed from Mental retardation, autosomal dominant 31, MIM# 616158 to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)

23 Feb 2022, Gel status: 2