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  2. Monogenic hearing loss
  3. PLCG1
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Monogenic hearing loss

Gene: PLCG1

Amber List (moderate evidence)
PLCG1 (phospholipase C gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000124181
EnsemblGeneIds (GRCh37): ENSG00000124181
OMIM: 172420, Gene2Phenotype
PLCG1 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

If PMID: 38260438 is accepted for publication, a green recommendation for PLCG1 would be made.
Created: 11 Nov 2024, 3:47 p.m. | Last Modified: 11 Nov 2024, 3:47 p.m.
Panel Version: 4.60
If the preprint PMID: 38260438 is accepted for publication, a green recommendation would be made for PLCG1.
Created: 11 Nov 2024, 3:44 p.m. | Last Modified: 11 Nov 2024, 3:44 p.m.
Panel Version: 4.60
Created: 11 Nov 2024, 3:44 p.m.
Last Modified: 11 Nov 2024, 3:44 p.m.
Panel version: 4.60

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

Limited case info in preprint, but PMID: 38260438 (2024) reported three unrelated individuals with de novo heterozygous missense variants in PLCG1, with symptoms including deafness, ophthalmologic abnormalities, cardiac septal defects, abnormal brain MRI and immune defects
Sources: Literature
Created: 18 Oct 2024, 10:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hearing impairment; ophthalmologic abnormalities; cardiac septal defects

Publications

Created: 18 Oct 2024, 10:29 a.m.

Panel version: 4.54

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • hearing impairment
  • ophthalmologic abnormalities
  • cardiac septal defects
Tags
watchlist
OMIM
172420
Clinvar variants
Variants in PLCG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: PLCG1.

11 Nov 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PLCG1 were set to PMID: 38260438

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: plcg1 has been classified as Amber List (Moderate Evidence).

18 Oct 2024, Gel status: 0

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

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: PLCG1 was added gene: PLCG1 was added to Monogenic hearing loss. Sources: Literature Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG1 were set to PMID: 38260438 Phenotypes for gene: PLCG1 were set to hearing impairment; ophthalmologic abnormalities; cardiac septal defects Review for gene: PLCG1 was set to AMBER