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
ATRIP	gene	ATRIP	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Seckel Syndrome			Microcephaly;HP:0000252	23144622		False	1	0;0;100	1.295	True		ENSG00000164053	ENSG00000164053	HGNC:33499													
CDC6	gene	CDC6	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Meier-Gorlin syndrome 5	(MIM#613805)"			Microcephaly;HP:0000252	21358632		False	1	0;0;100	1.295	True		ENSG00000094804	ENSG00000094804	HGNC:1744													
CENPE	gene	CENPE	Expert Review Red;Victorian Clinical Genetics Services	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 13, primary, autosomal recessive (MIM#616051)			Microcephaly;HP:0000252	24748105;30086807		False	1	0;0;100	1.295	True		ENSG00000138778	ENSG00000138778	HGNC:1856													
COPB1	gene	COPB1	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Baralle-Macken syndrome, MIM# 619255;Severe intellectual disability;variable microcephaly;cataracts			Microcephaly;HP:0000252	33632302		False	1	0;0;100	1.295	True		ENSG00000129083	ENSG00000129083	HGNC:2231													
DPP6	gene	DPP6	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability, autosomal dominant 33 (MIM#616311)			Microcephaly;HP:0000252	23832105		False	1	0;50;50	1.295	True		ENSG00000130226	ENSG00000130226	HGNC:3010													
KIF15	gene	KIF15	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Braddock-Carey syndrome 2 - MIM#619981			Microcephaly;HP:0000252	28150392		False	1	0;100;0	1.295	True		ENSG00000163808	ENSG00000163808	HGNC:17273													
KIF26B	gene	KIF26B	Expert Review;Expert Review Red	Microcephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis			Microcephaly;HP:0000252	30151950		False	1	0;0;100	1.295	True		ENSG00000162849	ENSG00000162849	HGNC:25484													
NAT8L	gene	NAT8L	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	N-acetylaspartate deficiency - MIM#614063			Microcephaly;HP:0000252	11310630;19807691;32275776		False	1	0;50;50	1.295	True		ENSG00000185818	ENSG00000185818	HGNC:26742													
NCAPH	gene	NCAPH	Expert Review Red;Victorian Clinical Genetics Services	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 23, primary, autosomal recessive 617985			Microcephaly;HP:0000252	27737959		False	1	0;0;100	1.295	True		ENSG00000121152	ENSG00000121152	HGNC:1112													
NIN	gene	NIN	Expert Review Red;Victorian Clinical Genetics Services	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 7, MIM#614851			Microcephaly;HP:0000252	22933543		False	1	0;0;100	1.295	True		ENSG00000100503	ENSG00000100503	HGNC:14906													
NUF2	gene	NUF2	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	microcephaly;short stature;bilateral vocal cord paralysis;micrognathia;atrial septal defect			Microcephaly;HP:0000252	33721060		False	1	0;0;100	1.295	True		ENSG00000143228	ENSG00000143228	HGNC:14621													
NUP37	gene	NUP37	Expert list;Expert Review Red	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 24, primary, autosomal recessive, MIM# 618179			Microcephaly;HP:0000252	30179222		False	1	0;0;100	1.295	True		ENSG00000075188	ENSG00000075188	HGNC:29929													
PCYT2	gene	PCYT2	Expert Review Red;Victorian Clinical Genetics Services	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 82, autosomal recessive 618770			Microcephaly;HP:0000252	31637422		False	1	0;0;100	1.295	True		ENSG00000185813	ENSG00000185813	HGNC:8756													
RGS6	gene	RGS6	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder, MONDO:0700092, RGS6-related			Microcephaly;HP:0000252	38332109;25525169		False	1	0;0;100	1.295	True		ENSG00000182732	ENSG00000182732	HGNC:10002													
TOGARAM1	gene	TOGARAM1	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Cleft of the lip and palate;Microphthalmia;Cerebral dysgenesis;Hydrocephalus			Microcephaly;HP:0000252	32747439		False	1	0;0;100	1.295	True		ENSG00000198718	ENSG00000198718	HGNC:19959													
TPR	gene	TPR	Expert Review Red;Literature	Microcephaly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal recessive 79, MIM# 620393			Microcephaly;HP:0000252	34494102		False	1	0;0;100	1.295	True		ENSG00000047410	ENSG00000047410	HGNC:12017													
TSEN34	gene	TSEN34	Expert Review Red;Victorian Clinical Genetics Services	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2C, MIM# 612390			Microcephaly;HP:0000252	18711368		False	1	0;0;100	1.295	True		ENSG00000170892	ENSG00000170892	HGNC:15506													
USP18	gene	USP18	Expert Review Red;Victorian Clinical Genetics Services	Microcephaly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Pseudo-TORCH syndrome 2 MIM#617397			Microcephaly;HP:0000252	27325888;31940699		False	1	0;0;100	1.295	True		ENSG00000184979	ENSG00000184979	HGNC:12616