Cytopenia - NOT Fanconi anaemia
Gene: CLPB
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 8:15 a.m. | Last Modified: 1 Feb 2023, 8:15 a.m.
Panel Version: 2.3
Comment on list classification: Upgraded from Red to Amber but should be made Green at the next GMS panel update.
Neutropenia is often reported and can be a severe and early feature, sometimes present from birth. Neutropenia was observed in at least 11 biallelic cases and 5 monoallelic cases which is sufficient for a Green rating under the MOI 'Both mono- and biallelic'Created: 15 Nov 2021, 3:51 p.m. | Last Modified: 15 Nov 2021, 3:51 p.m.
Panel Version: 1.47
additional evidence in PMID: 34115842Created: 3 Jun 2022, 3:38 p.m. | Last Modified: 3 Jun 2022, 3:38 p.m.
Panel Version: 1.69
Neutropenia is a common feature among the individuals with CLPB variantsCreated: 25 Oct 2021, 6:03 p.m. | Last Modified: 25 Oct 2021, 6:03 p.m.
Panel Version: 1.43
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neutropenia; intellectual disability
Publications
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: 14 patients in original cohort. Phenotype varies from severe neuropathy to just neutropenia with cataracts, although elevated 3-MGA in urine is diagnostic in all patients; North West GLH: Progressive brain atrophy, intellectual disability, neutropaenia, cataracts & movement disorder; 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
Tag Q4_21_rating was removed from gene: CLPB.
Source Expert Review Green was added to CLPB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813
Publications for gene: CLPB were set to 25597510; 25597511; 25650066; 26916670; 28687938; 34140661
Tag Q4_21_rating tag was added to gene: CLPB.
Gene: clpb has been classified as Amber List (Moderate Evidence).
Publications for gene: CLPB were set to
Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Source Expert Review Red was added to CLPB.
Source Expert review Red was added to CLPB.
Mode of inheritance for gene CLPB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
gene: CLPB was added gene: CLPB 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: CLPB was set to