Holoprosencephaly

Gene: PLCH1

Amber List (moderate evidence)

PLCH1 (phospholipase C eta 1)
EnsemblGeneIds (GRCh38): ENSG00000114805
EnsemblGeneIds (GRCh37): ENSG00000114805
OMIM: 612835, Gene2Phenotype
PLCH1 is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Two unrelated families reported in PMID:33820834 with a holoprosencephaly spectrum phenotype associated with biallelic PLCH1 variants. Rating Amber, awaiting further cases.
Created: 14 Apr 2021, 11:37 a.m. | Last Modified: 14 Apr 2021, 11:37 a.m.
Panel Version: 2.16
PLCH1 is currently not associated with any phenotype in OMIM (last edited on 16/06/2009) or Gene2Phenotype.

- PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease.

Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Created: 14 Apr 2021, 11:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe developmental delay; Brain malformations; Holoprosencephaly spectrum

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Severe developmental delay
  • Brain malformations
  • Holoprosencephaly spectrum
OMIM
612835
Clinvar variants
Variants in PLCH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: plch1 has been classified as Amber List (Moderate Evidence).

14 Apr 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: PLCH1 was added gene: PLCH1 was added to Holoprosencephaly. Sources: Literature Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCH1 were set to 33820834 Phenotypes for gene: PLCH1 were set to Severe developmental delay; Brain malformations; Holoprosencephaly spectrum Review for gene: PLCH1 was set to AMBER