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
DLL1	gene	DLL1	Expert Review Amber;Literature;NHS GMS	Holoprosencephaly - NOT chromosomal		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					27363716;21196490;29771000		False	2	0;100;0	5.11	False		ENSG00000198719	ENSG00000198719	HGNC:2908													
HS2ST1	gene	HS2ST1	Expert Review Amber;Literature	Holoprosencephaly - NOT chromosomal		Neurology	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;dysmorphic features;congenital anomalies				33159882		False	2	0;100;0	5.11	False		ENSG00000153936	ENSG00000153936	HGNC:5193													
PLCH1	gene	PLCH1	Expert Review Amber;Literature	Holoprosencephaly - NOT chromosomal		Neurology	BIALLELIC, autosomal or pseudoautosomal	Severe developmental delay;Brain malformations;Holoprosencephaly spectrum				33820834		False	2	0;100;0	5.11	False		ENSG00000114805	ENSG00000114805	HGNC:29185													
PPP1R12A	gene	PPP1R12A	Expert list;Expert Review Amber	Holoprosencephaly - NOT chromosomal		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Genitourinary and/or/brain malformation syndrome, 618820				31883643		False	2	50;50;0	5.11	False		ENSG00000058272	ENSG00000058272	HGNC:7618													
SUFU	gene	SUFU	Expert Review;Expert Review Amber;NHS GMS	Holoprosencephaly - NOT chromosomal		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Basal cell nevus syndrome, OMIM:109400				27363716;29771000		False	2	0;100;0	5.11	False		ENSG00000107882	ENSG00000107882	HGNC:16466