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
CD96	gene	CD96	Expert Review Amber;Genetic Health Queensland;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	C syndrome, MIM#211750			Abnormal corpus callosum morphology;HP:0001273	17847009		False	2	0;100;0	0.540	True		ENSG00000153283	ENSG00000153283	HGNC:16892													
CEP63	gene	CEP63	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 6, MIM#614728			Abnormal corpus callosum morphology;HP:0001273	21983783;26158450		False	2	0;100;0	0.540	True		ENSG00000182923	ENSG00000182923	HGNC:25815													
GCSH	gene	GCSH	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Multiple mitochondrial dysfunctions syndrome 7, MIM#	620423"			Abnormal corpus callosum morphology;HP:0001273	1671321;36190515		False	2	0;50;50	0.540	True		ENSG00000140905	ENSG00000140905	HGNC:4208													
HYLS1	gene	HYLS1	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome (MIM#236680)			Abnormal corpus callosum morphology;HP:0001273	15843405;18648327;19400947;19656802;32509774;26830932		False	2	0;100;0	0.540	True		ENSG00000198331	ENSG00000198331	HGNC:26558													
MRPS16	gene	MRPS16	Australian Genomcis Health Alliance Leukodystrophy Flagship;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 2;OMIM #610498			Abnormal corpus callosum morphology;HP:0001273	28749478;15505824		False	2	0;0;100	0.540	True		ENSG00000182180	ENSG00000182180	HGNC:14048													
NDUFAF3	gene	NDUFAF3	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240			Abnormal corpus callosum morphology;HP:0001273	27986404;29344937;19463981		False	2	0;100;0	0.540	True		ENSG00000178057	ENSG00000178057	HGNC:29918													
NDUFV2	gene	NDUFV2	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229			Abnormal corpus callosum morphology;HP:0001273	33811136;34405929;12754703;26008862;30770271;19167255		False	2	0;100;0	0.540	True		ENSG00000178127	ENSG00000178127	HGNC:7717													
PMS2	gene	PMS2	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mismatch repair cancer syndrome, MIM# 276300			Abnormal corpus callosum morphology;HP:0001273	22692065		False	2	0;100;0	0.540	True		ENSG00000122512	ENSG00000122512	HGNC:9122													
PROKR2	gene	PROKR2	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200			Abnormal corpus callosum morphology;HP:0001273			False	2	0;100;0	0.540	True		ENSG00000101292	ENSG00000101292	HGNC:15836													
SPTAN1	gene	SPTAN1	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 5, MIM# 613477			Abnormal corpus callosum morphology;HP:0001273	20493457;22258530;32811770		False	2	0;100;0	0.540	True		ENSG00000197694	ENSG00000197694	HGNC:11273													
U2AF2	gene	U2AF2	Expert Review Amber;Literature	Callosome		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535			Abnormal corpus callosum morphology;HP:0001273	34112922;37092751;36747105;37134193		False	2	0;100;0	0.540	True		ENSG00000063244	ENSG00000063244	HGNC:23156													
ZEB1	gene	ZEB1	Expert Review Amber;Victorian Clinical Genetics Services	Callosome		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Corpus callosum abnormalities MONDO:0009022			Abnormal corpus callosum morphology;HP:0001273	24780443;28284480;28742278;37857482		False	2	0;100;0	0.540	True		ENSG00000148516	ENSG00000148516	HGNC:11642