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Clefting v3.5 PLCB4 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: PLCB4.
Clefting v3.5 PLCB4 Achchuthan Shanmugasundram reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Clefting v3.4 PLCB4 Achchuthan Shanmugasundram Source NHS GMS was added to PLCB4.
Source Expert Review Green was added to PLCB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v2.68 PLCB4 Eleanor Williams Tag Q2_22_rating tag was added to gene: PLCB4.
Clefting v2.68 PLCB4 Eleanor Williams edited their review of gene: PLCB4: Added comment: PMID: 28328130 - Romanelli-Tavares et al 2017 - report 2 patients (1 sporadic, 1 familial) with previous published phenotypic descriptions of Auriculocondylar syndrome in which heterozygous missense variants were found in PLCB4 after sequencing PLCB4, GNAI3,and EDN1. Cleft palate was noted in 2/7 members of the familial case.

This is a 3rd case in which cleft palate is reported in association with PLCB4 variants and therefore there is sufficient evidence to promote this gene to green following GMS review.; Changed rating: GREEN; Changed publications to: 28328130
Clefting v2.68 PLCB4 Eleanor Williams Publications for gene: PLCB4 were set to 16114046; 32201334; 27007857; 23913798; 2560091; 23315542
Clefting v2.37 PLCB4 Eleanor Williams Phenotypes for gene: PLCB4 were changed from Cleft palate to Auriculocondylar syndrome 2, OMIM:614669; auriculocondylar syndrome 2, MONDO:0013845
Clefting v2.36 PLCB4 Eleanor Williams Publications for gene: PLCB4 were set to
Clefting v2.35 PLCB4 Eleanor Williams Mode of inheritance for gene: PLCB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting v2.34 PLCB4 Eleanor Williams Classified gene: PLCB4 as Amber List (moderate evidence)
Clefting v2.34 PLCB4 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber as there are two cases of auriculocondylar syndrome 2 associated with variants in this gene where cleft palate is part of the phenotype.
Clefting v2.34 PLCB4 Eleanor Williams Gene: plcb4 has been classified as Amber List (Moderate Evidence).
Clefting v2.33 PLCB4 Eleanor Williams edited their review of gene: PLCB4: Changed rating: AMBER; Changed publications to: 16114046, 32201334, 27007857, 23913798, 2560091, 23315542; Changed phenotypes to: Auriculocondylar syndrome 2, OMIM:614669, auriculocondylar syndrome 2, MONDO:0013845; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting v2.33 PLCB4 Eleanor Williams commented on gene: PLCB4
Clefting v2.20 PLCB4 Zornitza Stark reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315542; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting PLCB4 Ellen McDonagh Added gene to panel