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	Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Proteus syndrome, 176920;Proteus syndrome, somatic,176920;Macrocephaly and Overgrowth Syndromes;Proteus syndrome; Segmental Overgrowth Syndrome				33030203		False	3	100;0;0	4.5	False		ENSG00000142208	ENSG00000142208	HGNC:391													
AKT2	gene	AKT2	Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416				21979934;24285683;28502730;34673243		False	3	100;0;0	4.5	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000105221	ENSG00000105221	HGNC:392													
AKT3	gene	AKT3	Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937;Macrocephaly and Overgrowth Syndromes						False	3	100;0;0	4.5	False		ENSG00000117020	ENSG00000117020	HGNC:393													
ARAF	gene	ARAF	Expert list;Expert Review Green;NHS GMS	Segmental overgrowth disorders - Deep sequencing		Dermatology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	central conducting lymphatic anomaly				31263281		False	3	100;0;0	4.5	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000078061	ENSG00000078061	HGNC:646													
CCND2	gene	CCND2	Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3;Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3						False	3	100;0;0	4.5	False		ENSG00000118971	ENSG00000118971	HGNC:1583													
CDKN1C	gene	CDKN1C	Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Beckwith-Wiedemann syndrome, 130650; BWS;Macrocephaly and Overgrowth Syndromes;Beckwith-Wiedemann Syndrome; Hemiohyperplasia, Isolated, 235000; IH						False	3	100;0;0	4.5	False		ENSG00000129757	ENSG00000129757	HGNC:1786													
GJA4	gene	GJA4	Expert list;Expert Review Green;NHS GMS	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cutaneous and hepatic vascular lesions (no OMIM phenotype)				33912852;35642047;35902510;36209871;37072338		False	3	100;0;0	4.5	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000187513	ENSG00000187513	HGNC:4278													
PIK3CA	gene	PIK3CA	Emory Genetics Laboratory;Expert Review;Expert Review Green;Other;UKGTN	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; MCAP; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; CLOVE syndrome;Macrocephaly and Overgrowth Syndromes;Megalencephaly-Capillary malformation syndrome;  Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; CLOVES;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; macrocephaly-capillary malformation (MCM) syndrome						False	3	100;0;0	4.5	False		ENSG00000121879	ENSG00000121879	HGNC:8975													
PIK3R1	gene	PIK3R1	Expert list;Expert Review Green;NHS GMS	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Vascular malformation and overgrowth				29174369;34040190;35964931		False	3	100;0;0	4.5	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000145675	ENSG00000145675	HGNC:8979													
PIK3R2	gene	PIK3R2	Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387						False	3	100;0;0	4.5	False		ENSG00000105647	ENSG00000105647	HGNC:8980													
PTEN	gene	PTEN	Emory Genetics Laboratory;Expert Review;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS;Bannayan-Riley-Ruvalcaba syndrome,153480;PHTS; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes;megalencephaly; macrocephaly; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Cowden syndrome;Proteus-like syndrome; hemihypertrophy						False	3	100;0;0	4.5	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
RASA1	gene	RASA1	Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Parkes Weber syndrome, 608355; PKWS;Parkes Weber Syndrome						False	3	100;0;0	4.5	False		ENSG00000145715	ENSG00000145715	HGNC:9871													
SUZ12	gene	SUZ12	Expert Review Green;Literature	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Imagawa-Matsumoto syndrome 618786				28229514;30019515;31736240;15385962;19535498;31724824		False	3	100;0;0	4.5	False		ENSG00000178691	ENSG00000178691	HGNC:17101