Amelogenesis imperfecta
Gene: PLXNB2EnsemblGeneIds (GRCh38): ENSG00000196576
EnsemblGeneIds (GRCh37): ENSG00000196576
OMIM: 604293, Gene2Phenotype
PLXNB2 is in 6 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 5 Dec 2024, 4:40 p.m. | Last Modified: 5 Dec 2024, 4:40 p.m.
Panel Version: 3.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are seven patients from five different families (from a total of eight patients from six families) reported with amelogenesis imperfecta. Hence, this gene can be promoted to green rating in the next GMS update.Created: 24 Jun 2024, 12:09 p.m. | Last Modified: 24 Jun 2024, 12:11 p.m.
Panel Version: 3.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Publications
Claire Smith (University of Leeds)
PMID: 38458752 Smith et al. (in press) report 8 patients in 6 families with rare biallelic pathogenic variants in PLXNB2 as a cause of a new autosomal recessive, phenotypically diverse syndrome with AI and sensorineural hearing loss as core features. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases.
Sources: Literature, Expert Review
Personal communication with Roland Friedel and Christian Junquiera-Alves regarding their findings in their Plxnb2-/- mouse model after publication of human patients with PLXNB2 variants: "We had made also initial observations in the PB2 KO mouse on cochlear defects and tooth malformations that looked interesting, but we did not follow up as I focused on cerebellar development. Now these findings look in retrospect much more exciting considering your data."Created: 2 May 2024, 1:54 p.m. | Last Modified: 2 May 2024, 1:58 p.m.
Panel Version: 3.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta; sensorineural hearing loss
Publications
- PMID: 38458752
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- amelogenesis imperfecta, MONDO:0019507
- sensorineural hearing loss disorder, MONDO:0020678
- intellectual disability, MONDO:0001071
- Tags
- OMIM
- 604293
- Clinvar variants
- Variants in PLXNB2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: PLXNB2.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to PLXNB2. Source NHS GMS was added to PLXNB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: PLXNB2.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: plxnb2 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: PLXNB2.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta; sensorineural hearing loss to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PLXNB2 were set to PMID: 38458752
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Claire Smith (University of Leeds)gene: PLXNB2 was added gene: PLXNB2 was added to Amelogenesis imperfecta. Sources: Literature,Expert Review Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to PMID: 38458752 Phenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta; sensorineural hearing loss Penetrance for gene: PLXNB2 were set to unknown Review for gene: PLXNB2 was set to GREEN