Cytopenia - NOT Fanconi anaemia
Gene: HTRA2
HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels
1 review
Louise Daugherty (Genomics England Curator)
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Characterised by 3-MGA-uria similar to CLPB although isolated neutropenia not described? So far all cases have involved clear neurological symptoms and infantile death; North West GLH: 3-methylglutaconic aciduria, type VIII,Parkinsons; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- 3-methylglutaconic aciduria, type VIII, 617248
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bilateral congenital or childhood onset cataracts
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Congenital myopathy
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to HTRA2.
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Red was added to HTRA2.
4 Nov 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2
4 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: HTRA2 was added gene: HTRA2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: HTRA2 was set to