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 Green	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Proteus syndrome, somatic, OMIM:176920;Macrocephaly and Overgrowth Syndromes;Segmental Overgrowth Syndrome;Proteus syndrome				33030203		False	3	100;0;0	3.3	False		ENSG00000142208	ENSG00000142208	HGNC:391													
AKT3	gene	AKT3	Expert Review Green	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937;Macrocephaly and Overgrowth Syndromes						False	3	100;0;0	3.3	False		ENSG00000117020	ENSG00000117020	HGNC:393													
CCND2	gene	CCND2	Expert Review Green	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938						False	3	100;0;0	3.3	False		ENSG00000118971	ENSG00000118971	HGNC:1583													
MAX	gene	MAX	Expert Review Green;Literature;NHS GMS	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polydactyly-macrocephaly syndrome, OMIM:620712				38141607		False	3	100;0;0	3.3	False		ENSG00000125952	ENSG00000125952	HGNC:6913													
PIK3CA	gene	PIK3CA	Expert Review Green	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cowden syndrome 5, OMIM:615108;CLAPO syndrome, somatic, OMIM:613089;CLOVE syndrome, somatic, OMIM:612918;Macrodactyly, somatic, OMIM:155500;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501						False	3	100;0;0	3.3	False		ENSG00000121879	ENSG00000121879	HGNC:8975													
PIK3R2	gene	PIK3R2	Expert Review Green	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387						False	3	100;0;0	3.3	False		ENSG00000105647	ENSG00000105647	HGNC:8980													
PTEN	gene	PTEN	Expert Review Green	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cowden syndrome 1, OMIM:158350;Lhermitte-Duclos syndrome, OMIM:158350;Macrocephaly/autism syndrome, OMIM:605309						False	3	100;0;0	3.3	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
AKT2	gene	AKT2	Expert Review Red	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416						False	1	0;0;0	3.3	False		ENSG00000105221	ENSG00000105221	HGNC:392													
HRAS	gene	HRAS	Expert Review Red	Neurological segmental overgrowth		Neurology		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly						False	1	0;0;0	3.3	False		ENSG00000174775	ENSG00000174775	HGNC:5173													
KRAS	gene	KRAS	Expert Review Red	Neurological segmental overgrowth		Neurology		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly						False	1	0;0;0	3.3	False		ENSG00000133703	ENSG00000133703	HGNC:6407													
MTOR	gene	MTOR	Expert Review Red	Neurological segmental overgrowth		Neurology		Segmental Overgrowth Syndrome;HME;Hemimegalencephaly						False	1	0;0;0	3.3	False		ENSG00000198793	ENSG00000198793	HGNC:3942													
NRAS	gene	NRAS	Expert Review Red	Neurological segmental overgrowth		Neurology		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly						False	1	0;0;0	3.3	False		ENSG00000213281	ENSG00000213281	HGNC:7989													
TBC1D7	gene	TBC1D7	Expert Review Red	Neurological segmental overgrowth		Neurology	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000						False	1	100;0;0	3.3	False		ENSG00000145979	ENSG00000145979	HGNC:21066