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Limb disorders

Gene: FRAS1

Green List (high evidence)

FRAS1 (Fraser extracellular matrix complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 14 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Fraser syndrome includes syndactyly as a phenotype (in 62% of pateints - PMID: 12766769). Green for this disorders on several version 1 panels. More than 3 families reported.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome 1 219000

Publications

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Fraser syndrome includes synda

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fras1 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 FRAS1. Mode of inheritance for gene FRAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fraser syndrome 1 219000 for gene: FRAS1 Publications for gene FRAS1 were changed from to 12766769; 17163535; 16894541 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)

FRAS1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FRAS1 was created by Ellen McDonagh