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  3. PURA
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Speech apraxia

Gene: PURA

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

1 review

Thomas Scerri (Murdoch Children's Research Institute)

Red List (low evidence)

First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected.

Also several cases of "absence of speech" in the literature.

Sources: Expert list, Expert Review
Created: 27 Jun 2024, 10:09 a.m. | Last Modified: 1 Jul 2024, 11:14 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, MIM# 616158

Publications

Created: 27 Jun 2024, 10:09 a.m.
Last Modified: 1 Jul 2024, 11:14 a.m.
Panel version: 0.27

Details

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

History Filter Activity

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pura has been classified as Red List (Low Evidence).

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pura has been classified as Red List (Low Evidence).

27 Jun 2024, Gel status: 0

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

Thomas Scerri (Murdoch Children's Research Institute)

gene: PURA was added gene: PURA was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PURA were set to 36117209 Phenotypes for gene: PURA were set to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, MIM# 616158