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Intellectual disability syndromic and non-syndromic

Gene: PRODH

Green List (high evidence)

PRODH (proline dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000100033
EnsemblGeneIds (GRCh37): ENSG00000100033
OMIM: 606810, Gene2Phenotype
PRODH is in 8 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

DD/ID is a feature
Created: 14 Nov 2024, 3:28 a.m. | Last Modified: 14 Nov 2024, 3:28 a.m.
Panel Version: 0.6716

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperprolinemia, type I MIM#239500

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hyperprolinemia, type I MIM#239500
OMIM
606810
Clinvar variants
Variants in PRODH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PRODH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PRODH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PRODH were set to 17412540; 12217952

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PRODH were set to

14 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PRODH were changed from to Hyperprolinemia, type I MIM#239500

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRODH was added gene: PRODH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRODH was set to Unknown