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  3. PHB
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Optic neuropathy

Gene: PHB

Red List (low evidence)
PHB (prohibitin)
EnsemblGeneIds (GRCh38): ENSG00000167085
EnsemblGeneIds (GRCh37): ENSG00000167085
OMIM: 176705, Gene2Phenotype
PHB is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The new approved HGNC gene symbol for PHB is PHB1 (ENSG00000167085)
Created: 5 Aug 2026, 8:26 p.m. | Last Modified: 5 Aug 2026, 8:26 p.m.
Panel Version: 6.46
Created: 5 Aug 2026, 8:26 p.m.
Last Modified: 5 Aug 2026, 8:26 p.m.
Panel version: 6.46

Ida Ertmanska (Genomics England Curator)

Comment on list classification: As reviewed by Cassandra Smith, there is one pedigree reported in literature where a heterozygous missense variant in PHB1 segregated with optic atrophy. Hence, this gene can only be rated Red until more evidence emerges for the association.
Created: 4 Aug 2026, 2:53 p.m. | Last Modified: 4 Aug 2026, 2:53 p.m.
Panel Version: 6.45
Added new-gene-name tag, new approved HGNC gene symbol is PHB1.
Created: 4 Aug 2026, 2:51 p.m. | Last Modified: 4 Aug 2026, 2:51 p.m.
Panel Version: 6.44
Created: 4 Aug 2026, 2:51 p.m.
Last Modified: 4 Aug 2026, 2:51 p.m.
Panel version: 6.44

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
  • Expert Review Red
Phenotypes
  • optic atrophy, MONDO:0003608
Tags
new-gene-name
OMIM
176705
Clinvar variants
Variants in PHB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2026, Gel status: 1

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: PHB were changed from to optic atrophy, MONDO:0003608

4 Aug 2026, Gel status: 1

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

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

4 Aug 2026, Gel status: 0

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag new-gene-name tag was added to gene: PHB.

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