Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: PCBD1

Red List (low evidence)

PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000166228
EnsemblGeneIds (GRCh37): ENSG00000166228
OMIM: 126090, Gene2Phenotype
PCBD1 is in 11 panels

2 reviews

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to the panel as red due to expert review.
Created: 23 Aug 2016, 12:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

23 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PCBD1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PCBD1 was created by ellenmcdonagh