Childhood onset hereditary spastic paraplegia
Gene: AMFR
Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next GMS review.Created: 28 Jul 2023, 10:23 a.m. | Last Modified: 28 Jul 2023, 10:23 a.m.
Panel Version: 4.13
PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia.
This gene has been associated with relevant phenotypes in OMIM (MIM #620379), but not in Gene2Phenotype.
Sources: LiteratureCreated: 28 Jul 2023, 10:22 a.m. | Last Modified: 28 Jul 2023, 10:24 a.m.
Panel Version: 4.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 89, autosomal recessive, OMIM:620379
Publications
Gene: amfr has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: AMFR.
gene: AMFR was added gene: AMFR was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMFR were set to 37119330 Phenotypes for gene: AMFR were set to Spastic paraplegia 89, autosomal recessive, OMIM:620379 Review for gene: AMFR was set to GREEN