COL7A1

collagen type VII alpha 1 chain
OMIM: 120120, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green COL7A1 in Vasculitis Level 2: Immunological disorders Version 0.93	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL7A1 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.22	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes EBD inversa, MIM# 226600 EBD, Bart type MIM# 132000 EBD, localisata variant Epidermolysis bullosa dystrophica, MIM# 131750 Epidermolysis bullosa dystrophica, 226600 Epidermolysis bullosa pruriginosa 604129 Epidermolysis bullosa, pretibial, MIM# 131850 Transient bullous of the newborn 131705
Red COL7A1 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.126 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa dystrophica, AR, MIM# 226600
Green COL7A1 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes EBD inversa, MIM# 226600 EBD, Bart type MIM# 132000 EBD, localisata variant Epidermolysis bullosa dystrophica, MIM# 131750 Epidermolysis bullosa dystrophica, 226600 Epidermolysis bullosa pruriginosa 604129 Epidermolysis bullosa, pretibial, MIM# 131850 Transient bullous of the newborn 131705
Green COL7A1 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 Epidermolysis bullosa dystrophica, AR, 226600 (3)
Green COL7A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa dystrophica
Green COL7A1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa dystrophica, MIM#226600
Red COL7A1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes EBD inversa, MIM# 226600 EBD, Bart type MIM# 132000 EBD, localisata variant Epidermolysis bullosa dystrophica, MIM# 131750 Epidermolysis bullosa dystrophica, 226600 Epidermolysis bullosa pruriginosa 604129 Epidermolysis bullosa, pretibial, MIM# 131850 Transient bullous of the newborn 131705
Green COL7A1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa dystrophica inversa MIM#226600 Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600 Epidermolysis bullosa dystrophica, localisata variant MIM#226600 Epidermolysis bullosa pruriginosa MIM#604129