Callosome
Gene: PSMF1EnsemblGeneIds (GRCh38): ENSG00000125818
EnsemblGeneIds (GRCh37): ENSG00000125818
PSMF1 is in 7 panels
1 review
Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)
Patients have a range of neurological disorders ranging from neonatal lethality to Parkinsonism with intellectual disability.
Nearly all patients have corpus callosum agenesis.
LoF have a more severe phenotype than missense. The association of a LoF and a missense is common.
Sources: LiteratureCreated: 14 Oct 2024, 9:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- doi: 10.1101/2024.06.19.24308302
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
- Clinvar variants
- Variants in PSMF1
- Penetrance
- Complete
- Publications
-
- doi: 10.1101/2024.06.19.24308302
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psmf1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PSMF1 were changed from to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psmf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)gene: PSMF1 was added gene: PSMF1 was added to Callosome. Sources: Literature Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMF1 were set to doi: 10.1101/2024.06.19.24308302 Penetrance for gene: PSMF1 were set to Complete Review for gene: PSMF1 was set to GREEN