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STRs in panel
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Primary immunodeficiency

Gene: EFL1

Amber List (moderate evidence)

EFL1 (elongation factor like GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000140598
EnsemblGeneIds (GRCh37): ENSG00000140598
OMIM: 617538, Gene2Phenotype
EFL1 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:28 p.m. | Last Modified: 20 Oct 2020, 3:28 p.m.
Panel Version: 2.350

Catherine Snow (Genomics England)

Comment on list classification: EFL1 identified by expert review. Promoting from Grey to Green, sufficient number of unrelated individuals with Shwachman-Diamond like syndrome.
Created: 28 Apr 2020, 7:35 a.m. | Last Modified: 28 Apr 2020, 7:35 a.m.
Panel Version: 2.130

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified. Neutropaenia is part of the phenotype, and other SDS genes are part of the PID panel.
Sources: Expert list
Created: 10 Apr 2020, 6:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Shwachman-Diamond syndrome 2, MIM# 617941

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Shwachman-Diamond syndrome 2, MIM# 617941
Tags
for-review
OMIM
617538
Clinvar variants
Variants in EFL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: efl1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: EFL1.

28 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: efl1 has been classified as Green List (High Evidence).

10 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: EFL1 was added gene: EFL1 was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFL1 were set to 28331068; 31151987 Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941 Review for gene: EFL1 was set to GREEN gene: EFL1 was marked as current diagnostic