Syndromic Retinopathy
Gene: HACE1EnsemblGeneIds (GRCh38): ENSG00000085382
EnsemblGeneIds (GRCh37): ENSG00000085382
OMIM: 610876, Gene2Phenotype
HACE1 is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter, are more variable.
8 unrelated families, mouse model.Created: 14 Mar 2021, 5:31 a.m. | Last Modified: 14 Mar 2021, 5:31 a.m.
Panel Version: 0.6706
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Publications
Bryony Thompson (Royal Melbourne Hospital)
Retinal dystrophy reported as a feature of the condition in two families.
Sources: Expert listCreated: 21 May 2020, 11:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Amber
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
- OMIM
- 610876
- Clinvar variants
- Variants in HACE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hace1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hace1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HACE1 was added gene: HACE1 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26424145 Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Review for gene: HACE1 was set to AMBER