Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: FREM2

FREM2 (FRAS1 related extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 12 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Fraser syndrome is characterised by cryptophtalmos, syndactyly, respiratory, and urogenital tracts anomalies.
IUGR has also been reported
Created: 13 Dec 2021, 3:06 a.m. | Last Modified: 13 Dec 2021, 3:06 a.m.

Panel Version: 0.10206

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Dec 2021, 3:06 a.m.
Last Modified: 13 Dec 2021, 3:06 a.m.
Panel version: Imported from Mendeliome panel version 0.10206

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

608945

Clinvar variants

Variants in FREM2

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FREM2 was added gene: FREM2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FREM2 was set to Unknown

Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Gene: FREM2