Hydrops fetalis
Gene: FRAS1
FRAS1 (Fraser extracellular matrix complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
In a series of 38 antenatally ascertained cases, 9 had hydrops. However, 11/38 had molecular testing, and only 8 had molecularly confirmed diagnosis (FRAS1 variants, none in FREM2 or GRIP1).
Sources: Expert listCreated: 22 Aug 2020, 5:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fraser syndrome 1, MIM# 219000
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Fraser syndrome 1, MIM# 219000
- OMIM
- 607830
- Clinvar variants
- Variants in FRAS1
- 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
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
History Filter Activity
22 Aug 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fras1 has been classified as Amber List (Moderate Evidence).
22 Aug 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fras1 has been classified as Amber List (Moderate Evidence).
22 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FRAS1 was added gene: FRAS1 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRAS1 were set to 27859469 Phenotypes for gene: FRAS1 were set to Fraser syndrome 1, MIM# 219000 Review for gene: FRAS1 was set to AMBER