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Intellectual disability syndromic and non-syndromic

Gene: PLOD3

Amber List (moderate evidence)

PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: Two other reports identified, one of connective tissue/EB phenotype and the other in a large study reporting multiple emerging genes in consanguineous families
Created: 8 Dec 2019, 10:42 p.m. | Last Modified: 8 Dec 2019, 10:42 p.m.
Panel Version: 0.973
Single family (sibs) reported initially, primarily a connective tissue phenotype. Another family reported recently with three affected sibs with a Stickler-like phenotype, extended connective tissue involvement and dev delay.
Created: 8 Dec 2019, 10:34 p.m. | Last Modified: 8 Dec 2019, 10:34 p.m.
Panel Version: 0.969

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysyl hydroxylase 3 deficiency, MIM#612394

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Lysyl hydroxylase 3 deficiency, MIM#612394
OMIM
603066
Clinvar variants
Variants in PLOD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLOD3 were set to 18834968; 31129566

8 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plod3 has been classified as Amber List (Moderate Evidence).

8 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLOD3 were changed from to Lysyl hydroxylase 3 deficiency, MIM#612394

8 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLOD3 were set to

8 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plod3 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLOD3 was added gene: PLOD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLOD3 was set to Unknown