Hereditary spastic paraplegia

Gene: HACE1

Green List (high evidence)

HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000085382
EnsemblGeneIds (GRCh37): ENSG00000085382
OMIM: 610876, Gene2Phenotype
HACE1 is in 8 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment 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.

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 2:12 p.m.

Chris Buxton (North Bristol NHS Trust)

I don't know

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: Literature
Created: 28 Nov 2018, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia; psychomotor retardation; seizure

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia
  • psychomotor retardation
  • seizure
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
OMIM
610876
Clinvar variants
Variants in HACE1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

14 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: hace1 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

8 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: hace1 has been classified as Amber List (Moderate Evidence).

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hace1 has been classified as Red List (Low Evidence).

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hace1 has been classified as Red List (Low Evidence).

28 Nov 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Chris Buxton (North Bristol NHS Trust)

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