Early-onset Parkinson disease
Gene: HEXAEnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Indirect link to PD.Created: 19 Jul 2022, 9:30 a.m. | Last Modified: 19 Jul 2022, 9:30 a.m.
Panel Version: 0.187
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease, MIM# 272800
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)
Sources: LiteratureCreated: 17 Jul 2022, 3:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2 Gangliosidosis; Tay-Sachs disease; Parkinsonism; OMIM 272800
Publications
- PMID: 33069254
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- GM2 Gangliosidosis
- Tay-Sachs disease
- Parkinsonism
- OMIM 272800
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- None
- Publications
-
- PMID: 33069254
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Motor Neurone Disease
- Macrocephaly_Megalencephaly
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hexa has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hexa has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hexa has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)gene: HEXA was added gene: HEXA was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to PMID: 33069254 Phenotypes for gene: HEXA were set to GM2 Gangliosidosis; Tay-Sachs disease; Parkinsonism; OMIM 272800 Review for gene: HEXA was set to GREEN