Hereditary spastic paraplegia
Gene: HACE1Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain who says that Progressive spasticity seems to be a clear feature and there are sufficient cases.Created: 14 Jan 2019, 9:38 a.m.
Comment on list classification: Updated rating from Red to Amber awaiting further clinical review. Gene added to panel and rated Amber by Chris Buxton (Bristol NHS) based on >3 cases of patients with 'Spastic paraplegia and psychomotor retardation with or without seizures, 616756' from 2 papers (Hollstein et al., 2015/PMID:26424145 and Akawi et al., 2015/PMID:26437029).Created: 8 Jan 2019, 2:52 p.m.
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 2:12 p.m.
Associated with 'Spastic paraplegia and psychomotor retardation with or without seizures' is an autosomal recessive complex neurodevelopmental disorder with onset in infancy
Hollstein (2015, 26424145): Exome study, 2 families with 8 affected individuals with biallelic LoF variants. Absence of expressed protein shown by Western blots.
Akawi (2015, 26437029) 6 patients from 4 unrelated families with SPPRS (truncal hypotonia and mixed spastic and dystonic tetraparesis)
Sources: LiteratureCreated: 28 Nov 2018, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia; psychomotor retardation; seizure
Publications
Publications for gene: HACE1 were set to 26424145; 26437029
Gene: hace1 has been classified as Green List (High Evidence).
Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Gene: hace1 has been classified as Amber List (Moderate Evidence).
Gene: hace1 has been classified as Red List (Low Evidence).
Gene: hace1 has been classified as Red List (Low Evidence).
gene: HACE1 was added gene: HACE1 was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26424145; 26437029 Phenotypes for gene: HACE1 were set to Spastic paraplegia; psychomotor retardation; seizure Penetrance for gene: HACE1 were set to unknown Review for gene: HACE1 was set to AMBER