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.
Created: 14 Apr 2021, 11:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Severe developmental delay; Brain malformations; Holoprosencephaly spectrum
Gene: plch1 has been classified as Amber List (Moderate Evidence).
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