Cytopenia - NOT Fanconi anaemia

Gene: EFL1

The 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: 31151987

Created: 28 Apr 2020, 7:38 a.m. | Last Modified: 28 Apr 2020, 7:38 a.m.

Panel Version: 1.5

I don't know

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

Green List (high evidence)

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

I don't know

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, 28331068

Created: 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 submitted

Created: 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): 28331068

Created: 8 Feb 2019, 1:43 p.m.

Green List (high evidence)

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