Monogenic hearing loss
Gene: PLXNB2EnsemblGeneIds (GRCh38): ENSG00000196576
EnsemblGeneIds (GRCh37): ENSG00000196576
OMIM: 604293, Gene2Phenotype
PLXNB2 is in 4 panels
2 reviews
Achchuthan Shanmugasundram (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, 8:33 p.m. | Last Modified: 5 Dec 2024, 8:33 p.m.
Panel Version: 4.62
Comment on list classification: As reported in PMID:38458752, there are seven patients from five different families (from a total of eight patients from six families) reported with sensorineural hearing loss. Hence, this gene can be promoted to green rating in the next GMS update.Created: 24 Jun 2024, 1 p.m. | Last Modified: 24 Jun 2024, 1 p.m.
Panel Version: 4.43
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Publications
Zornitza Stark (Australian Genomics)
8 individuals from 6 families with core features of amelogenesis imperfecta and sensorineural hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. WES and WGS identified biallelic pathogenic variants in PLXNB2 (missense, nonsense, splice and a multiexon deletion variants). Variants segregated with disease.
PLXNB2 is a large transmembrane semaphorin receptor protein, and semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Plxnb2 expression was detected in differentiating ameloblasts in mice. Human phenotype overlaps with that seen in Plxnb2 knockout mice.
Sources: LiteratureCreated: 22 Apr 2024, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic disease MONDO:0002254, PLXNB2 -related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- amelogenesis imperfecta, MONDO:0019507
- sensorineural hearing loss disorder, MONDO:0020678
- intellectual disability, MONDO:0001071
- Tags
- OMIM
- 604293
- Clinvar variants
- Variants in PLXNB2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: PLXNB2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (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).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: plxnb2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: PLXNB2 was added gene: PLXNB2 was added to Monogenic hearing loss. Sources: Expert Review Amber,Literature Q2_24_promote_green tags were added to gene: PLXNB2. Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to 38458752 Phenotypes for gene: PLXNB2 were set to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071