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
ABI2	gene	ABI2	Expert Review Amber;Literature	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, MONDO:0700092, ABI2-related			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	40475134		False	2	0;100;0	1.0	True		ENSG00000138443	ENSG00000138443	HGNC:24011													
ATXN2L	gene	ATXN2L	Expert Review Amber;Literature	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	macrocephaly;intellectual disability			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	33283965;33057194		False	2	0;100;0	1.0	True		ENSG00000168488	ENSG00000168488	HGNC:31326													
CHD1	gene	CHD1	Expert Review Amber;Literature	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability;macrocephaly			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	28866611		False	2	0;100;0	1.0	True	Other	ENSG00000153922	ENSG00000153922	HGNC:1915													
MAX	gene	MAX	Expert Review Amber;Literature	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polydactyly-macrocephaly syndrome, MIM# 620712			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	38141607		False	2	0;100;0	1.0	True		ENSG00000125952	ENSG00000125952	HGNC:6913													
TET3	gene	TET3	Expert Review Amber;Literature	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	"Beck-Fahrner syndrome	MIM#618798"			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	PMID: 31928709		False	2	0;100;0	1.0	True		ENSG00000187605	ENSG00000187605	HGNC:28313													
WDFY3	gene	WDFY3	Expert Review Amber;Literature	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with macrocephaly			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	31327001		False	2	0;100;0	1.0	True		ENSG00000163625	ENSG00000163625	HGNC:20751