Vasculitis (Version 0.86)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 117 Entitiess
Green List (high evidence)	ACP5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ACTA2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ADA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags founder
Green List (high evidence)	ADAR	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	AICDA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	APOA1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	BMPR2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	BTK	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C1QA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C1QB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C1QC	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C1R	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C6	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C7	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C8B	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C9	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CASP10	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CBS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD40LG	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFH	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFHR5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFI	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFP	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	COL3A1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	COL4A1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	COL7A1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CYBA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CYBB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	DCLRE1C	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	DNASE1L3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	DOCK8	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FASLG	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FBN1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FERMT1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FGA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FOXP3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	G6PC3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GLA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GSN	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GUCY1A3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GUCY2C	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HPS1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HPS4	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HPS6	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HTRA1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ICOS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IKBKG	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL10	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL10RA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL10RB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL1RN	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL2RA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL36RN	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ITGB2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LPIN2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LRBA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LYN	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammatory disease, systemic, with vasculitis, MIM# 620376 Tags
Green List (high evidence)	LYZ	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MEFV	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MVK	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	NCF1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	NCF2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green List (high evidence)	NCF4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 Tags
Green List (high evidence)	NLRP12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial cold autoinflammatory syndrome 2 - MIM#611762 Tags
Green List (high evidence)	NLRP3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	NOTCH3	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 Tags
Green List (high evidence)	NRAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PIK3R1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PLCG2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PRF1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PRKCD	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PSMB8	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PSTPIP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Tags
Green List (high evidence)	PTEN	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RBCK1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RET	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RNASEH2A	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RNASEH2B	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RNASEH2C	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RNF213	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SAMHD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green List (high evidence)	SERPING1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SH2D1A	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SKIV2L	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC29A3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC2A10	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC37A4	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	STX11	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	STXBP2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571 Low CD8 absent MHC I on lymphocytes Vasculitis pyoderma gangrenosum recurrent bacterial/viral respiratory infections bronchiectasis Tags
Green List (high evidence)	TGFBR1	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TGFBR2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMEM173	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes STING-associated vasculopathy, infantile-onset, MIM# 615934 Tags
Green List (high evidence)	TNFRSF1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Periodic fever, familial, MIM# 142680 Tags
Green List (high evidence)	TRAP1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TREX1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TRNT1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TTC37	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TTR	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	UNC13D	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	WAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Amber List (moderate evidence)	C4A	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes C4a deficiency MIM#614380 susceptibility systemic lupus erythematosus Tags SV/CNV
Amber List (moderate evidence)	C8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes C8 deficiency, type I MIM#613790 Tags
Amber List (moderate evidence)	CST3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cerebral amyloid angiopathy, MIM# 105150 Tags founder
Amber List (moderate evidence)	HCK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Tags
Red List (low evidence)	ADAM17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328 Recurrent infections Tags
Red List (low evidence)	APOA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Apolipoprotein A-II deficiency {Hypercholesterolemia, familial, modifier of} MIM#143890 Tags
Red List (low evidence)	CASP8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags
Red List (low evidence)	DNASE1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Systemic lupus erythematosus, susceptibility to} - MIM#152700 Tags
Red List (low evidence)	MASP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes MASP2 deficiency, MIM# 613791 Tags
Red List (low evidence)	MBL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Chronic infections, due to MBL deficiency} 614372 Tags
Red List (low evidence)	NOD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Blau syndrome, MIM# 186580 Tags
Red List (low evidence)	WDR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 Neutropaenia Poor wound healing Severe stomatitis Neutrophil nuclei herniate Autoinflammatory periodic fever Thrombocytopaenia Tags

Vasculitis (Version 0.86)

10 reviewers

117 Entities

24 reviewed, 105 green

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