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
AP1S1	gene	AP1S1	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MEDNIK syndrome; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome				26927810;19057675;24754424;23423674		False	3	0;0;0	1.3	False		ENSG00000106367	ENSG00000106367	HGNC:559													
AP3B1	gene	AP3B1	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 2				26927810;23557002;19679886;16537806;11590544		False	3	0;0;0	1.3	False		ENSG00000132842	ENSG00000132842	HGNC:566													
EPG5	gene	EPG5	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Vici syndrome, 242840;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM				PMID: 23222957;25331754;26917586;26395118;23838600;23674064;28624465		False	3	100;0;0	1.3	False		ENSG00000152223	ENSG00000152223	HGNC:29331													
LAMP2	gene	LAMP2	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Danon disease				26927810;27179547;27497751;27460667;27145725;24691104;24222494		False	3	0;0;0	1.3	False		ENSG00000005893	ENSG00000005893	HGNC:6501													
LYST	gene	LYST	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	chediak-higashi syndrome				26927810;28183707;28145517;26499269;24112114;24072239;20368792;14599068		False	3	0;0;0	1.3	False		ENSG00000143669	ENSG00000143669	HGNC:1968													
MLPH	gene	MLPH	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome 3				26927810;22711375		False	3	0;0;0	1.3	False		ENSG00000115648	ENSG00000115648	HGNC:29643													
MYO5A	gene	MYO5A	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome 1				26927810;22711375		False	3	0;0;0	1.3	False		ENSG00000197535	ENSG00000197535	HGNC:7602													
RAB27A	gene	RAB27A	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome 2;Elejalde syndrome; Griscelli syndrome, type 2 (OMIM)				26927810;28585352;28484936;28357189;25500851;25312756;24678334;21314004;20591709;18489042		False	3	0;0;0	1.3	False		ENSG00000069974	ENSG00000069974	HGNC:9766													
SIL1	gene	SIL1	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Marinesco-sjoegren syndrome (with phenotypical overlap with Vici syndrome);Marinesco-Sjogren syndrome, 248800				26927810;27544240;27106665;26260654;25982182;25958341;24176978		False	3	0;0;0	1.3	False		ENSG00000120725	ENSG00000120725	HGNC:24624													
SNAP29	gene	SNAP29	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	CEDNIK; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome				26927810;15968592;23231787;25958742		False	3	0;0;0	1.3	False		ENSG00000099940	ENSG00000099940	HGNC:11133													
VPS13B	gene	VPS13B	Expert Review Green;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Cohen syndrome				26927810;20656880;19190672;18655112;16648375;26104215		False	3	0;0;0	1.3	False		ENSG00000132549	ENSG00000132549	HGNC:2183													
CTDP1	gene	CTDP1	Expert Review Amber;Literature	Vici Syndrome and other autophagy disorders	Autophagy disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Congenital cataracts, facial dysmorphism, and neuropathy syndrome				26927810;16939648;24690360		False	2	0;0;0	1.3	False		ENSG00000060069	ENSG00000060069	HGNC:2498