Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ABCA12	gene	ABCA12	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 4A, 601277;  Ichthyosis, autosomal recessive 4B (harlequin), 242500; Lamellar ichthyosis; Some affected persons exhibit scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000144452	ENSG00000144452	HGNC:14637													
ALOX12B	gene	ALOX12B	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 2, 242100; Lamellar ichthyosis; Some affected persons exhibit scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000179477	ENSG00000179477	HGNC:430													
ALOXE3	gene	ALOXE3	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 3, 606545; Some affected persons exhibit scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000179148	ENSG00000179148	HGNC:13743													
C2	gene	C2	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders		discoid lupus erythematosus; discoid (cutaneous) lupus				 6902670		False	1	0;0;0	1.6	False		ENSG00000166278	ENSG00000166278	HGNC:1248													
C5	gene	C5	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders		discoid lupus erythematosus				1999552		False	1	0;0;0	1.6	False		ENSG00000106804	ENSG00000106804	HGNC:1331													
CERS3	gene	CERS3	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 9, 615023; Some affected persons exhibit scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000154227	ENSG00000154227	HGNC:23752													
CLDN1	gene	CLDN1	Expert Review Red;Other;Radboud University Medical Center, Nijmegen	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626; scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000163347	ENSG00000163347	HGNC:2032													
CYBB	gene	CYBB	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Chronic granulomatous disease, X-linked, 306400; CGD; discoid lupus erythematosus						False	1	0;0;0	1.6	False		ENSG00000165168	ENSG00000165168	HGNC:2578													
CYP4F22	gene	CYP4F22	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 5, 604777; Lamellar ichthyosis; Some affected persons exhibit scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000171954	ENSG00000171954	HGNC:26820													
GJB2	gene	GJB2	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hystrix-like ichthyosis with deafness, 602540; HID syndrome; Scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000165474	ENSG00000165474	HGNC:4284													
ITGA6	gene	ITGA6	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis Bullosa with Pyloric Atresia; EB-PA; scarring alopecia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730				20301336		False	1	0;0;0	1.6	False		ENSG00000091409	ENSG00000091409	HGNC:6142													
ITGB4	gene	ITGB4	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis Bullosa with Pyloric Atresia; EB-PA; scarring alopecia; Epidermolysis bullosa, junctional, with pyloric atresia, 226730				20301336		False	1	0;0;0	1.6	False		ENSG00000132470	ENSG00000132470	HGNC:6158													
LIPN	gene	LIPN	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 8, 613943; Some affected persons exhibit scarring alopecia; Lamellar ichthyosis						False	1	0;0;0	1.6	False		ENSG00000204020	ENSG00000204020	HGNC:23452													
NIPAL4	gene	NIPAL4	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 6, 612281; Some affected persons exhibit scarring alopecia; Lamellar ichthyosis						False	1	0;0;0	1.6	False		ENSG00000172548	ENSG00000172548	HGNC:28018													
PLEC	gene	PLEC	Emory Genetics Laboratory;Expert Review Red	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487;Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950;Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670;Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138				20301336		False	1	0;0;0	1.6	False		ENSG00000178209	ENSG00000178209	HGNC:9069													
PNPLA1	gene	PNPLA1	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 10, 615024; Some affected persons exhibit scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000180316	ENSG00000180316	HGNC:21246													
PPARG	gene	PPARG	Expert Review Red;Literature	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	Unknown	scarring alopecia; primary cicatricial alopecia; PCA; lichen planopilaris; LPP				19369934;19052558		False	1	0;0;0	1.6	False		ENSG00000132170	ENSG00000132170	HGNC:9236													
ST14	gene	ST14	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 11, 602400; Some affected persons exhibit scarring alopecia						False	1	0;0;0	1.6	False		ENSG00000149418	ENSG00000149418	HGNC:11344													
TGM1	gene	TGM1	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 1, 242300; Some affected persons exhibit scarring alopecia; Lamellar ichthyosis						False	1	0;0;0	1.6	False		ENSG00000092295	ENSG00000092295	HGNC:11777													
TSPYL2	gene	TSPYL2	Expert Review Red;Other	Familial cicatricial alopecia	Skin adnexa disorders	Dermatological disorders	Unknown	discoid lupus erythematosus						False	1	0;0;0	1.6	False		ENSG00000184205	ENSG00000184205	HGNC:24358