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Prepair 1000+

Gene: PRDM5

Green List (high evidence)
PRDM5 (PR/SET domain 5)
EnsemblGeneIds (GRCh38): ENSG00000138738
EnsemblGeneIds (GRCh37): ENSG00000138738
OMIM: 614161, Gene2Phenotype
PRDM5 is in 6 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

PRDM5, HGNC:9349. From OMIM; Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It has been classified as a form of Ehlers-Danlos syndrome. Extra ocular features reported include increased skin laxity, pectus excavatum, scoliosis, congenital hip dislocation, recurrent shoulder dislocation, high-frequency hearing loss, high-arched palate, and mitral valve prolapse.
Childhood onset, more than 5 unrelated families reported.
Created: 4 Feb 2025, 10:04 a.m. | Last Modified: 4 Feb 2025, 10:04 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brittle cornea syndrome 2, MIM#614170

Publications

Created: 4 Feb 2025, 10:04 a.m.
Last Modified: 4 Feb 2025, 10:04 a.m.
Panel version: 1.1456

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 2, MIM#614170
OMIM
614161
Clinvar variants
Variants in PRDM5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm5 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170 (3) to Brittle cornea syndrome 2, MIM#614170

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRDM5 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Brittle cornea syndrome 2, 614170 (3) for gene: PRDM5

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRDM5 was added gene: PRDM5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)