Cytopenia - NOT Fanconi anaemia

Gene: HTRA2

Red List (low evidence)

HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 19 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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

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