Cytopenia - NOT Fanconi anaemia
Gene: LIG4
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted it was syndromic.Created: 22 Jul 2019, 2:13 p.m. | Last Modified: 22 Jul 2019, 2:13 p.m.
Panel Version: 0.110
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LIG4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606593 LIG4 syndrome; PMID(s): 16088910; 11779494; 20133615Created: 8 Feb 2019, 1:43 p.m.
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
606593 LIG4 syndrome
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: LIG4 were changed from 606593 LIG4 syndrome to LIG4 syndrome, OMIM:606593
Gene: lig4 has been classified as Red List (Low Evidence).
Source Expert Review Green was added to LIG4. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene LIG4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 606593 LIG4 syndrome for gene: LIG4
Added phenotypes 606593 LIG4 syndrome for gene: LIG4 Publications for gene LIG4 were changed from to 20133615; 16088910; 11779494
Source NHS GMS was added to LIG4.
gene: LIG4 was added gene: LIG4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: LIG4 was set to