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
AKT1	gene	AKT1	Expert Review Amber;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cowden syndrome 6, MIM#615109			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	23246288		False	2	0;100;0	0.149	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000142208	ENSG00000142208	HGNC:391													
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	0.149	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	0.149	True	Other	ENSG00000153922	ENSG00000153922	HGNC:1915													
FIBP	gene	FIBP	Expert Review Amber;Victorian Clinical Genetics Services	Macrocephaly_Megalencephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Thauvin-Robinet-Faivre syndrome, MIM#617107			Macrocephaly;HP:0000256; Megalencephaly;HP:0001355	26660953;27183861		False	2	0;100;0	0.149	True		ENSG00000172500	ENSG00000172500	HGNC:3705													
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	0.149	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	0.149	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	0.149	True		ENSG00000163625	ENSG00000163625	HGNC:20751