Childhood onset hereditary spastic paraplegia

Gene: RNF170

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: 10 Oct 2023, 5:14 p.m. | Last Modified: 10 Oct 2023, 5:18 p.m.

Panel Version: 4.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: There is sufficient evidence (6 unrelated cases) for this gene to be promoted to GREEN at the next major review.

Created: 15 Mar 2023, 7:11 a.m. | Last Modified: 15 Mar 2023, 7:11 a.m.

Panel Version: 3.26

PMID:31636353 reported 9 patients from 4 unrelated families with childhood-onset spastic paraplegia. The age of onset of the condition ranged from 2 to 5 years of age and they were all identified with a homozygous variant in RNF170 gene. It is a neurological disorder characterised by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities, with oilder patients also having upper limb involvement and axonal polyneuropathy.

PMID:33165979 reported four members from a single family carrying a homozygous stop gain variant in RNF170 and diagnosed with hereditary spastic paraplegia.

PMID:35041108 reported a 7 year old girl with novel homozygous missense variant in RNF170 and she presented with progressive difficulty in walking that started when she was 3 years old, lower limb predominant spastic paraparesis, and mild upper limbs involvement with slight tremor in the hands, all occurring in the absence of neurodevelopmental or growth delays.

This gene has been associated with relevant phenotypes in OMIM (MIM #619686), but not yet in Gene2Phenotype.

Created: 15 Mar 2023, 7:03 a.m. | Last Modified: 15 Mar 2023, 7:05 a.m.

Panel Version: 3.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 85, autosomal recessive, OMIM:619686

Publications

• 31636353
• 33165979
• 35041108

Green List (high evidence)

Four families reported with a complicated HSP phenotype.
Sources: Expert list

Created: 20 Sep 2020, 6:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia

Publications

• 31636353