Differences of Sex Development
Gene: FREM2EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 12 panels
1 review
Chirag Patel (Genetic Health Queensland)
Fraser syndrome is an autosomal recessive malformation disorder. Major criteria include syndactyly, cryptophthalmos spectrum, urinary tract abnormalities, ambiguous genitalia, laryngeal and tracheal anomalies, and positive family history. Minor criteria include anorectal defects, dysplastic ears, skull ossification defects, umbilical abnormalities, and nasal anomalies.
Established gene-disease association.
Sources: LiteratureCreated: 5 Dec 2024, 4:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fraser syndrome 2, MIM#617666
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Fraser syndrome 2, MIM#617666
- OMIM
- 608945
- Clinvar variants
- Variants in FREM2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Callosome
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: frem2 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FREM2 were set to PMID: 15838507, 29688405, 18203166, 18671281, 18000968
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: frem2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: frem2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: frem2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: FREM2 was added gene: FREM2 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM2 were set to PMID: 15838507, 29688405, 18203166, 18671281, 18000968 Phenotypes for gene: FREM2 were set to Fraser syndrome 2, MIM#617666 Review for gene: FREM2 was set to GREEN