CRELD1

cysteine rich with EGF like domains 1
OMIM: 607170, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red CRELD1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atrioventricular septal defect, susceptibility to, 2 Atrioventricular septal defect, partial, with heterotaxy syndrome MIM#606217
Red CRELD1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Amber CRELD1 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.36	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Green CRELD1 in Mendeliome Version 1.2302	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217
Green CRELD1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Green CRELD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Red CRELD1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	Not set	Sources Expert Review Amber Emory Genetics Laboratory Victorian Clinical Genetics Services
Red CRELD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Cardiac atrioventricular septal defect
Amber CRELD1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Amber CRELD1 in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Red CRELD1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiac atrioventricular septal defect