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  3. PHB
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Optic neuropathy

Gene: PHB

No list
PHB (prohibitin)
EnsemblGeneIds (GRCh38): ENSG00000167085
EnsemblGeneIds (GRCh37): ENSG00000167085
OMIM: 176705, Gene2Phenotype
PHB is in 2 panels

1 review

Cassandra Smith (Genomics England)

I don't know

42067999: c.440C>T (p.Ser147Phe) segregating in five affected members of a three generation family. Ratios of OPA1 short and long isoforms were shifted in patients compared to controls
Sources: Literature
Created: 10 Jun 2026, 12:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 10 Jun 2026, 12:22 p.m.

Panel version: 6.42

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
OMIM
176705
Clinvar variants
Variants in PHB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2026, Gel status: 0

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

Cassandra Smith (Genomics England)

gene: PHB was added gene: PHB was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: PHB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHB were set to 42067999 Review for gene: PHB was set to AMBER