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  3. PLCB3
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Corneal Dystrophy

Gene: PLCB3

Red List (low evidence)
PLCB3 (phospholipase C beta 3)
EnsemblGeneIds (GRCh38): ENSG00000149782
EnsemblGeneIds (GRCh37): ENSG00000149782
OMIM: 600230, Gene2Phenotype
PLCB3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single consanguineous family reported.
Sources: Expert list
Created: 24 Jul 2020, 5:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961

Publications

Created: 24 Jul 2020, 5:36 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961
OMIM
600230
Clinvar variants
Variants in PLCB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plcb3 has been classified as Red List (Low Evidence).

24 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLCB3 was added gene: PLCB3 was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCB3 were set to 29122926 Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 Review for gene: PLCB3 was set to RED