1. Panels
  2. Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
  3. PDIA6
STRs in panel
Prev Next
Regions in panel
Prev Next

Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy

Gene: PDIA6

Amber List (moderate evidence)
PDIA6 (protein disulfide isomerase family A member 6)
EnsemblGeneIds (GRCh38): ENSG00000143870
EnsemblGeneIds (GRCh37): ENSG00000143870
OMIM: 611099, Gene2Phenotype
PDIA6 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Upgraded to Amber in view of the functional data.
Created: 14 Apr 2021, 10:15 a.m. | Last Modified: 14 Apr 2021, 10:15 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes

Created: 14 Apr 2021, 10:15 a.m.
Last Modified: 14 Apr 2021, 10:15 a.m.
Panel version: 0.61

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Created: 14 Apr 2021, 6:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes

Publications

Created: 14 Apr 2021, 6:07 a.m.

Panel version: 0.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
OMIM
611099
Clinvar variants
Variants in PDIA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdia6 has been classified as Amber List (Moderate Evidence).

14 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdia6 has been classified as Amber List (Moderate Evidence).

14 Apr 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PDIA6 was added gene: PDIA6 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDIA6 were set to PMID: 33495992 Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Review for gene: PDIA6 was set to RED