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
A2ML1	gene	A2ML1	Expert Review Red;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	24939586;25862627		False	1	0;0;100	0.149	True		ENSG00000166535	ENSG00000166535	HGNC:23336													
FAM20C	gene	FAM20C	Expert Review Red;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	Unknown				Macrocephaly;HP:0000256; Megalencephaly;HP:0001355			False	1	0;0;0	0.149	True		ENSG00000177706	ENSG00000177706	HGNC:22140													
HYAL1	gene	HYAL1	Expert Review Red;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IX, MIM# 601492;MONDO:0011093			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	10339581;18344557;21559944		False	1	0;0;100	0.149	True		ENSG00000114378	ENSG00000114378	HGNC:5320													
PTCH2	gene	PTCH2	Expert Review Red;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Basal cell nevus syndrome, MIM#109400			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	30820324;23479190;18285427		False	1	0;0;100	0.149	True		ENSG00000117425	ENSG00000117425	HGNC:9586													
RAB34	gene	RAB34	Expert Review Red;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	Unknown				Macrocephaly;HP:0000256; Megalencephaly;HP:0001355			False	1	0;0;100	0.149	True		ENSG00000109113	ENSG00000109113	HGNC:16519													
RASA2	gene	RASA2	Expert Review Red;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	Unknown				Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	25049390;30311384		False	1	0;0;100	0.149	True		ENSG00000155903	ENSG00000155903	HGNC:9872													
RNF135	gene	RNF135	Expert Review Red;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	Unknown				Macrocephaly;HP:0000256; Megalencephaly;HP:0001355			False	1	0;0;100	0.149	True		ENSG00000181481	ENSG00000181481	HGNC:21158													
RRAS	gene	RRAS	Expert Review Red;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome, MONDO:0018997			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	24705357;32815881		False	1	0;0;100	0.149	True		ENSG00000126458	ENSG00000126458	HGNC:10447