Childhood onset hereditary spastic paraplegia

Gene: AMFR

Green List (high evidence)

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: 4 May 2024, 6:25 p.m. | Last Modified: 4 May 2024, 6:26 p.m.

Panel Version: 5.3

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: Literature

Created: 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

• 37119330