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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. EFEMP2
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Pulmonary Fibrosis_Interstitial Lung Disease

Gene: EFEMP2

Green List (high evidence)
EFEMP2 (EGF containing fibulin extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 26 Jul 2024, 8:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IB MIM# 614437

Created: 26 Jul 2024, 8:29 a.m.

Panel version: 0.64

History Filter Activity

26 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: efemp2 has been classified as Green List (High Evidence).

26 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: efemp2 has been classified as Green List (High Evidence).

26 Jul 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EFEMP2 was added gene: EFEMP2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB MIM# 614437 Review for gene: EFEMP2 was set to GREEN