Prepair 1000+

Gene: ATP13A2

Green List (high evidence)

HGNC approved symbol/name: ATP13A2: ATPase cation transporting 13A2.
OMIM:Kufor-Rakeb syndrome average age of onset 13 years with rapid progression (MIM#606693). Spastic paraplegia 78, autosomal recessive (MIM#617225) mean age of onset 32 years

Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that this condition can be considered among the syndromes of neurodegeneration with brain iron accumulation.

At least 3 families with neuronal ceroid lipofuscinosis (NCL) features and an animal model. A family with a homozygous variant had a phenotype that included severe action myoclonus and early onset seizure. Animal model identified, where a homozygous frameshift caused adult-onset NCL in Tibetan terriers. Biallelic case with fine myoclonus and NCL-like deposits in the brain. Another family with typical NCL pathology in which a single homozygous mutation in ATP13A2 was identified that fully segregates with disease within the family.

Created: 7 Aug 2024, 2:46 a.m. | Last Modified: 7 Aug 2024, 2:46 a.m.

Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kufor-Rakeb syndrome (MIM#606693)

Publications

• 30868101
• 21362476
• 31588715
• 22388936

Green List (high evidence)

Average age of onset 13yo, rapidly progressive condition. R/v by ZS/AY/SL/AA/JM/CL.

Created: 11 Aug 2022, 6:38 a.m. | Last Modified: 11 Aug 2022, 6:38 a.m.

Panel Version: 0.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kufor-Rakeb syndrome (MIM#606693)

Red List (low evidence)

Progressive neurological disorders with onset in second/third decade.

Created: 21 Jul 2022, 3:49 a.m. | Last Modified: 21 Jul 2022, 3:49 a.m.

Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kufor-Rakeb syndrome (MIM#606693); Spastic paraplegia 78, autosomal recessive (MIM#617225)

Publications

• 28137957
• 30746398