FRAS1

Fraser extracellular matrix complex subunit 1
OMIM: 607830, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green FRAS1 in Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.14

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory

Green FRAS1 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.23

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fraser syndrome

Green FRAS1 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.13

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Expert Review Green
Phenotypes
  • Fraser syndrome 219000

Green FRAS1 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.8

5 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 219000
  • Fraser syndrome 219000

Red FRAS1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.4

0 reviews Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red FRAS1 in Posterior segment abnormalities

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.78

0 reviews Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders

Green FRAS1 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Fraser syndrome, 219000

Amber FRAS1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.70

5 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fraser syndrome 1 219000