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  3. CD40
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Cytopenia - NOT Fanconi anaemia

Gene: CD40

Red List (low evidence)
CD40 (CD40 molecule)
EnsemblGeneIds (GRCh38): ENSG00000101017
EnsemblGeneIds (GRCh37): ENSG00000101017
OMIM: 109535, Gene2Phenotype
CD40 is in 4 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: Autosomal recessive but seems to be indistinguishable from the X-linked CD40LG form; North West GLH: CD40 deficiency /Hyper-IgM syndrome; Yorkshire and North East GLH: no comment submitted; London South GLH: On immunodeficiency panel.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
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
  • Immunodeficiency with hyper-IgM, type 3, 606843
OMIM
109535
Clinvar variants
Variants in CD40
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CD40.

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Red was added to CD40.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CD40 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CD40 was added gene: CD40 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: CD40 was set to