PLCB4

phospholipase C beta 4
OMIM: 600810, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PLCB4 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.9

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 2A, MIM# 614669
  • Auriculocondylar syndrome 2B, MIM# 620458

Green PLCB4 in Mendeliome


Version 2.588

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 2A, MIM# 614669
  • Auriculocondylar syndrome 2B, MIM# 620458

Green PLCB4 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.5

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 2A, MIM# 614669
  • Auriculocondylar syndrome 2B, MIM# 620458

Green PLCB4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 2A, MIM# 614669
  • Auriculocondylar syndrome 2B, MIM# 620458

Green PLCB4 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Auriculocondylar syndrome 2A, MIM# 614669
  • Auriculocondylar syndrome 2B, MIM# 620458
  • Cleft palate

Green PLCB4 in Fetal anomalies


Version 2.81

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Auriculocondylar syndrome 2A, MIM# 614669
  • Auriculocondylar syndrome 2B, MIM# 620458