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Limb disorders

Gene: FREM2

Green List (high evidence)
FREM2 (FRAS1 related extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 13 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Fraser syndrome 2 617666 includes cutaneous syndactyly as a phenotype. More than 3 families reported. Currently Green for this phenotype on several version 1 panels.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome 2 617666

Publications

Created: 7 Nov 2018, 1:26 p.m.

Panel version: 0.270

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Fraser syndrome 2 617666 inclu

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: frem2 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to FREM2. Mode of inheritance for gene FREM2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fraser syndrome 2 617666 for gene: FREM2 Publications for gene FREM2 were changed from to 18203166; 18671281; 15838507 Rating Changed from Red List (low evidence) to Green List (high evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FREM2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FREM2 was created by Ellen McDonagh