XPA

XPA, DNA damage recognition and repair factor
OMIM: 611153, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green XPA in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group A , MIM#278700 MONDO:0010210
Green XPA in Mendeliome Version 1.3795	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group A , MIM#278700 MONDO:0010210
Green XPA in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.132	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green XPA in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group A , MIM#278700 MONDO:0010210
Green XPA in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green XPA in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group A , MIM#278700 MONDO:0010210
Green XPA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Xeroderma pigmentosum, group A OMIM# 278700
Green XPA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group A, 278700 (3)
Green XPA in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum
Red XPA in Fetal anomalies Version 1.481	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Xeroderma pigmentosum, group A, OMIM# 278700
Green XPA in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group A , MIM#278700
Green XPA in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Xeroderma pigmentosum, group A MIM#278700 Tags treatable clinical trial
Green XPA in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group A , MIM#278700
Green XPA in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes xeroderma pigmentosum group A MONDO:0010210