XPA

XPA, DNA damage recognition and repair factor
OMIM: 611153, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green XPA in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.19	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 1.1891	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 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green XPA in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	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 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green XPA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Xeroderma pigmentosum, group A OMIM# 278700
Red XPA in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Xeroderma pigmentosum, type 1
Red XPA in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Xeroderma pigmentosum, type 1
Red XPA in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Xeroderma pigmentosum, type 1
Green XPA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	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	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum
Red XPA in Fetal anomalies Version 1.255	review	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group A, 278700 (3)
Green XPA in BabyScreen+ newborn screening Level 2: Screening Version 1.113	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 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group A, 278700 (3)