Cytopenia - NOT Fanconi anaemia
Gene: EFL1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:49 a.m.
Panel Version: 1.57
Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be reviewed at next major review.Created: 15 Oct 2020, 7:23 p.m. | Last Modified: 15 Oct 2020, 7:23 p.m.
Panel Version: 1.29
Comment on list classification: Upgrading to Green based on further individuals identified in publication PMID: 31151987Created: 28 Apr 2020, 7:38 a.m. | Last Modified: 28 Apr 2020, 7:38 a.m.
Panel Version: 1.5
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
Shwachman-Diamond syndrome 2, 617941
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
617941 Shwachman-Diamond syndrome 2
Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.Created: 22 Jul 2019, 11:44 a.m. | Last Modified: 22 Jul 2019, 11:44 a.m.
Panel Version: 0.61
Discrepant reviews for EFL1: Rated as Green by LSGLH, YNEGLH- Amber rating NWGLH, no review by WWMGLH. To be discussed at July workshop to agree rating.Created: 22 Jul 2019, 11:43 a.m. | Last Modified: 22 Jul 2019, 11:46 a.m.
Panel Version: 0.61
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: EFL1; 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: 617941 Shwachman-Diamond syndrome 2; PMID(s): 29970384, 28331068Created: 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: EFL1; 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: 617941 Shwachman-Diamond syndrome 2; 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: EFL1; 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: 617941 Shwachman-Diamond syndrome 2; PMID(s): 28331068Created: 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
617941 Shwachman-Diamond syndrome 2
Tag for-review was removed from gene: EFL1.
Source Expert Review Green was added to EFL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: efl1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: EFL1.
Publications for gene: EFL1 were set to 29970384, 28331068
Gene: efl1 has been classified as Green List (High Evidence).
Gene: efl1 has been classified as Amber List (Moderate Evidence).
Added phenotypes Shwachman-Diamond syndrome 2, 617941 for gene: EFL1 Publications for gene EFL1 were changed from 28331068 to 29970384, 28331068
Source North West GLH was added to EFL1.
Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1
Source Yorkshire and North East GLH was added to EFL1.
Source Expert Review Green was added to EFL1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene EFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1
Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1 Publications for gene EFL1 were changed from to 28331068
Source NHS GMS was added to EFL1.
gene: EFL1 was added gene: EFL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: EFL1 was set to