FREM1

FRAS1 related extracellular matrix 1
OMIM: 608944, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green FREM1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.159 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green
Amber FREM1 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital diaphragmatic hernia
Red FREM1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.72	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Trigonocephaly 2, MIM# 614485 Tags disputed
Green FREM1 in Mendeliome Version 1.3499	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Manitoba oculotrichoanal syndrome 248450 Bifid nose with or without anorectal and renal anomalies, MIM# 608980 Trigonocephaly 2, MIM# 614485
Green FREM1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Red FREM1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Manitoba oculotrichoanal syndrome
Green FREM1 in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Manitoba oculotrichoanal syndrome 248450 Bifid nose with or without anorectal and renal anomalies, MIM# 608980 Trigonocephaly 2, MIM# 614485
Green FREM1 in Prepair 1000+ Level 2: Screening Version 2.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Manitoba oculotrichoanal syndrome MIM# 248450 Bifid nose with or without anorectal and renal anomalies, MIM# 608980
Red FREM1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Manitoba oculotrichoanal syndrome