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
AFF3	gene	AFF3	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	KINSSHIP syndrome, MIM# 619297			Hypertrichosis;HP:0000998	31388108;33961779		False	3	100;0;0	0.46	True		ENSG00000144218	ENSG00000144218	HGNC:6473													
AFF4	gene	AFF4	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHOPS syndrome, MIM#616368;MONDO:0014609			Hypertrichosis;HP:0000998	25730767;33248856;31630891;31058441		False	3	100;0;0	0.46	True		ENSG00000072364	ENSG00000072364	HGNC:17869													
ARID1A	gene	ARID1A	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000117713	ENSG00000117713	HGNC:11110													
ARID1B	gene	ARID1B	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000049618	ENSG00000049618	HGNC:18040													
ARID2	gene	ARID2	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 6, MIM# 617808			Hypertrichosis;HP:0000998	26238514;30838730;29698805;28884947;28124119		False	3	100;0;0	0.46	True		ENSG00000189079	ENSG00000189079	HGNC:18037													
BRD4	gene	BRD4	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 6, MIM# 620568			Hypertrichosis;HP:0000998	29379197;30302754;11997514;34035299		False	3	100;0;0	0.46	True		ENSG00000141867	ENSG00000141867	HGNC:13575													
FGF5	gene	FGF5	Expert Review Green;Literature	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hypertrichosis			Hypertrichosis;HP:0000998	24989505		False	3	100;0;0	0.46	True		ENSG00000138675	ENSG00000138675	HGNC:3683													
HDAC8	gene	HDAC8	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		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)	Cornelia de Lange syndrome 5, MIM# 300882			Hypertrichosis;HP:0000998	30614194;24403048		False	3	100;0;0	0.46	True		ENSG00000147099	ENSG00000147099	HGNC:13315													
KDM6A	gene	KDM6A	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000147050	ENSG00000147050	HGNC:12637													
KMT2A	gene	KMT2A	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wiedemann-Steiner syndrome, MIM# 605130 AD			Hypertrichosis;HP:0000998			False	3	100;0;0	0.46	True		ENSG00000118058	ENSG00000118058	HGNC:7132													
KMT2D	gene	KMT2D	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000167548	ENSG00000167548	HGNC:7133													
NIPBL	gene	NIPBL	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000164190	ENSG00000164190	HGNC:28862													
PHF6	gene	PHF6	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000156531	ENSG00000156531	HGNC:18145													
PUF60	gene	PUF60	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000179950	ENSG00000179950	HGNC:17042													
RAD21	gene	RAD21	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 4, MIM # 614701			Hypertrichosis;HP:0000998	22633399;32193685;27882533;30716475;30125677;24378232		False	3	100;0;0	0.46	True		ENSG00000164754	ENSG00000164754	HGNC:9811													
SETBP1	gene	SETBP1	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000152217	ENSG00000152217	HGNC:15573													
SETD5	gene	SETD5	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, autosomal dominant 23 (MIM # 615761)			Hypertrichosis;HP:0000998	29484850		False	3	0;0;0	0.46	True		ENSG00000168137	ENSG00000168137	HGNC:25566													
SLC25A24	gene	SLC25A24	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000085491	ENSG00000085491	HGNC:20662													
SMARCA4	gene	SMARCA4	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000127616	ENSG00000127616	HGNC:11100													
SMARCB1	gene	SMARCB1	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000099956	ENSG00000099956	HGNC:11103													
SMARCE1	gene	SMARCE1	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 5, MIM# 616938			Hypertrichosis;HP:0000998	22426308;23906836;23929686;32732226;32436246;32410215;34205270		False	3	100;0;0	0.46	True		ENSG00000073584	ENSG00000073584	HGNC:11109													
SMC1A	gene	SMC1A	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		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)	Cornelia de Lange syndrome 2, MIM# 300590			Hypertrichosis;HP:0000998	17273969;22106055;19701948;26752331;28166369		False	3	100;0;0	0.46	True		ENSG00000072501	ENSG00000072501	HGNC:11111													
SMC3	gene	SMC3	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000108055	ENSG00000108055	HGNC:2468													
SURF1	gene	SURF1	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000148290	ENSG00000148290	HGNC:11474													
TMEM94	gene	TMEM94	Expert Review Green;Literature	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	OMIM# 618316 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES;IDDCDF			Hypertrichosis;HP:0000998	30526868		False	3	100;0;0	0.46	True		ENSG00000177728	ENSG00000177728	HGNC:28983													
WAC	gene	WAC	Expert Review Green;Victorian Clinical Genetics Services	Hypertrichosis syndromes		Dysmorphic and congenital abnormality syndromes	Unknown				Hypertrichosis;HP:0000998			False	3	0;0;0	0.46	False		ENSG00000095787	ENSG00000095787	HGNC:17327