Childhood onset hereditary spastic paraplegia

Gene: AIMP1

The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.

Panel Version: 3.9

Comment on mode of inheritance: MOI should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update (tagged Q3_21_MOI).

Literature review showed that all affected individuals harbour biallelic variants, while heterozygous variant carriers are asymptomatic. The MOI is also biallelic in OMIM, Gen2Phen, and all other relevant panels.

Created: 16 Aug 2021, 11:01 a.m. | Last Modified: 16 Aug 2021, 11:01 a.m.

Panel Version: 2.51

Green List (high evidence)

Childhood onset. At least three families with same founder mutation.

Created: 3 May 2019, 3:21 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• 21092922
• 30477741
• 30486714

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:54 p.m.

Green List (high evidence)

Victoria: infantile and childhood onset. infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. 2 publications, affected members in large consanguineous Israeli Bedouin kinderd & in Filipino girl

Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600

Onset in first months of life for Leukodystrophy, hypomyelinating, 3

Created: 14 Jan 2019, 4:01 p.m.