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Mendeliome

Gene: PRIMA1

Red List (low evidence)

PRIMA1 (proline rich membrane anchor 1)
EnsemblGeneIds (GRCh38): ENSG00000175785
EnsemblGeneIds (GRCh37): ENSG00000175785
OMIM: 613851, Gene2Phenotype
PRIMA1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

- 2/3 siblings from unaffected parents in PMID: 26339676 were diagnosed with nocturnal frontal lobe epilepsy, which was confirmed by EEG. The affected siblings were homozygous for the c.93+2T>C variant canonical splice site variant. This variant was demonstrated by mini-gene assay to skip exon 2 of PRIMA1. Overall 1 family, 2 individuals with epilepsy and high impact variants in PRIMA1.
Sources: Expert list
Created: 13 Feb 2024, 10:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontal Lobe Epilepsy MONDO:0002612

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Frontal Lobe Epilepsy MONDO:0002612
OMIM
613851
Clinvar variants
Variants in PRIMA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prima1 has been classified as Red List (Low Evidence).

13 Feb 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRIMA1 was added gene: PRIMA1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PRIMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIMA1 were set to 26339676 Phenotypes for gene: PRIMA1 were set to Frontal Lobe Epilepsy MONDO:0002612 Review for gene: PRIMA1 was set to RED