Brain Calcification
Gene: PLXNA1EnsemblGeneIds (GRCh38): ENSG00000114554
EnsemblGeneIds (GRCh37): ENSG00000114554
OMIM: 601055, Gene2Phenotype
PLXNA1 is in 4 panels
1 review
Yetong Chen (University of Melbourne)
There is limited evidence supporting the causal role of the PLXNA1 gene in brain calcification.
PMID 34054129 reports a patient (H:II-1) with a PLXNA1 variant (c.5242C>T) who developed basal ganglia calcifications.
Sources: Expert listCreated: 24 Apr 2023, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955
- OMIM
- 601055
- Clinvar variants
- Variants in PLXNA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plxna1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plxna1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: PLXNA1 was added gene: PLXNA1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLXNA1 were set to 34054129 Phenotypes for gene: PLXNA1 were set to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Review for gene: PLXNA1 was set to RED