CRELD1

cysteine rich with EGF like domains 1
OMIM: 607170, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red CRELD1 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	Not set	Sources Emory Genetics Laboratory
Amber CRELD1 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 Tags watchlist
Red CRELD1 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Amber CRELD1 in Laterality disorders and isomerism Level 2: Respiratory Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
Red CRELD1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Amber CRELD1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Green CRELD1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771 CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217
Red CRELD1 in Paediatric disorders - additional genes Level 2: Developmental disorders Version 7.31 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome Atrioventricular septal defect, susceptibility to, 2
Green CRELD1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 Jeffries-Lakhani neurodevelopmental syndrome, MONDO:0958329 Tags Q4_24_NHS_review Q4_24_MOI
Green CRELD1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Red CRELD1 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Emory Genetics Laboratory Expert list Phenotypes ciliopathies