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Intellectual disability

Gene: PLOD3

Red List (low evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Possible disease gene in Developmental Disorders Genotype-Phenotype Database (DDG2P). Lysyl hydroxylase 3 deficiency is a connective tissue disorder, characterized by multiple tissue and organ involvement, including skeletal abnormalities, ocular involvement and global developmental delay. There is not enough evidence in the literature to promote this gene.
Created: 31 Oct 2017, 11:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysyl hydroxylase 3 deficiency, 612394

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Lysyl hydroxylase 3 deficiency, 612394
OMIM
603066
Clinvar variants
Variants in PLOD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLOD3 was added to Intellectual disability panel. Sources: Expert Review Red

29 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PLOD3 was created by Ellen McDonagh