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  3. P4HA1
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Aortopathy_Connective Tissue Disorders

Gene: P4HA1

Red List (low evidence)
P4HA1 (prolyl 4-hydroxylase subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000122884
EnsemblGeneIds (GRCh37): ENSG00000122884
OMIM: 176710, Gene2Phenotype
P4HA1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with two affected individuals.
Sources: Expert list
Created: 8 Jul 2020, 3:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joint hypermobility; Contractures; Hypotonia; Mild skeletal dysplasia without bone fragility; High myopia

Publications

Created: 8 Jul 2020, 3:01 a.m.

Panel version: 0.139

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Joint hypermobility
  • Contractures
  • Hypotonia
  • Mild skeletal dysplasia without bone fragility
  • High myopia
OMIM
176710
Clinvar variants
Variants in P4HA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p4ha1 has been classified as Red List (Low Evidence).

8 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: P4HA1 was added gene: P4HA1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: P4HA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P4HA1 were set to 28419360 Phenotypes for gene: P4HA1 were set to Joint hypermobility; Contractures; Hypotonia; Mild skeletal dysplasia without bone fragility; High myopia Review for gene: P4HA1 was set to RED