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
BRF1	gene	BRF1	Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellofaciodental syndrome  616202  				25561519		False	1	0;100;0	1.86	False		ENSG00000185024	ENSG00000185024	HGNC:11551													
FRMD4A	gene	FRMD4A	Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 				25388005		False	1	0;0;100	1.86	False		ENSG00000151474	ENSG00000151474	HGNC:25491													
NMNAT2	gene	NMNAT2	Expert Review Red;Research	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	hydrops fetalis;cystic hygroma;bilateral hypoplastic lungs;hydrocephalus;hypoplastic cerebellum;severely reduced skeletal muscle mass or absence;flexion contractures of all extremities;micrognathia;cleft palate;hydropic placenta				31136762		False	1	100;0;0	1.86	False		ENSG00000157064	ENSG00000157064	HGNC:16789													
PCLO	gene	PCLO	Expert Review Red;Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar Hypoplasia type 3				PMID: 25832664		False	1	0;0;0	1.86	False		ENSG00000186472	ENSG00000186472	HGNC:13406													
PMPCA	gene	PMPCA	Expert Review Red;Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 2  213200  AR  				PubMed: 10528257, 25808372		False	1	0;0;0	1.86	False		ENSG00000165688	ENSG00000165688	HGNC:18667													
POMK	gene	POMK	Literature;UKGTN	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12  615249  				24925318		False	1	0;0;0	1.86	False		ENSG00000185900	ENSG00000185900	HGNC:26267													
STUB1	gene	STUB1	Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768;autosomal recessive spinocerebellar ataxia 16, MONDO:0014339;Spinocerebellar ataxia 48, OMIM:618093;spinocerebellar ataxia 48, MONDO:0032526				24312598;25592071;30381368;32713943;33564152;35493319;34906452		False	1	100;0;0	1.86	False		ENSG00000103266	ENSG00000103266	HGNC:11427													
TUBB	gene	TUBB	Literature;UKGTN	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cortical dysplasia, complex, with other brain malformations 6,  615771  				23246003, 27010057 		False	1	0;100;0	1.86	False		ENSG00000196230	ENSG00000196230	HGNC:20778