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  2. Cytopenia - NOT Fanconi anaemia
  3. CD40LG
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Cytopenia - NOT Fanconi anaemia

Gene: CD40LG

Red List (low evidence)
CD40LG (CD40 ligand)
EnsemblGeneIds (GRCh38): ENSG00000102245
EnsemblGeneIds (GRCh37): ENSG00000102245
OMIM: 300386, Gene2Phenotype
CD40LG is in 6 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: Patients with X-linked hyper IgM syndrome caused by CD40 ligand deficiency often present with episodic, cyclic or chronic neutropenia. Cabral-Marques 2018; North West GLH: 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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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, X-linked, with hyper-IgM, 308230
OMIM
300386
Clinvar variants
Variants in CD40LG
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 CD40LG.

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Red was added to CD40LG.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CD40LG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CD40LG was added gene: CD40LG 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: CD40LG was set to