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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Fraser syndrome is characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract.

Multiple families reported.
Created: 5 Jan 2022, 12:36 a.m. | Last Modified: 5 Jan 2022, 12:36 a.m.
Panel Version: 0.10477

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome 1, MIM#219000

Publications

History Filter Activity

5 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fras1 has been classified as Green List (High Evidence).

5 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FRAS1 were changed from to Fraser syndrome 1, MIM#219000

5 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FRAS1 were set to

5 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FRAS1 was added gene: FRAS1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FRAS1 was set to Unknown