Cytopenia - NOT Fanconi anaemia
Gene: JAGN1
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616022 Neutropenia, severe congenital, 6, autosomal recessive
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 5:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616022 Neutropenia, severe congenital, 6, autosomal recessive
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.Created: 22 Jul 2019, 12:35 p.m. | Last Modified: 22 Jul 2019, 12:35 p.m.
Panel Version: 0.68
Discrepant reviews for JAGN1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.Created: 22 Jul 2019, 11:56 a.m. | Last Modified: 22 Jul 2019, 11:56 a.m.
Panel Version: 0.65
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: JAGN1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): 11101832Created: 18 Feb 2019, 2:57 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: JAGN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 p.m.
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: JAGN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6; PMID(s): 25129144Created: 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, 1:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616022 Neutropenia, severe congenital, 6
Gene: jagn1 has been classified as Green List (High Evidence).
Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1 Publications for gene JAGN1 were changed from 25129144 to 11101832
Source North West GLH was added to JAGN1.
Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1
Source Yorkshire and North East GLH was added to JAGN1.
Source Expert Review Green was added to JAGN1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene JAGN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1
Added phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1 Publications for gene JAGN1 were changed from to 25129144
Source NHS GMS was added to JAGN1.
gene: JAGN1 was added gene: JAGN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: JAGN1 was set to