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BabyScreen+ newborn screening

Gene: EFL1

Green List (high evidence)

EFL1 (elongation factor like GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000140598
EnsemblGeneIds (GRCh37): ENSG00000140598
OMIM: 617538, Gene2Phenotype
EFL1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Congenital onset, multi-system disorder.

Treatment: oral pancreatic enzymes, fat-soluble vitamins, blood and/or platelet transfusions, granulocyte-colony stimulation factor, Haematopoietic Stem Cell Transplantation (HSCT) Bone marrow transplant
Created: 16 Nov 2022, 7:13 a.m. | Last Modified: 16 Nov 2022, 7:13 a.m.
Panel Version: 0.900

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Shwachman-Diamond syndrome 2, MIM# 617941

Details

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

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag gastrointestinal tag was added to gene: EFL1.

16 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EFL1 was added gene: EFL1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941