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
ATP8A2	gene	ATP8A2	Expert Review Amber;Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4  615268  				22892528		False	2	0;100;0	1.86	False		ENSG00000132932	ENSG00000132932	HGNC:13533													
C16orf62	gene	C16orf62	Expert Review Amber;Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	3C/Ritscher-Schinzel-like syndrome				31712251		False	2	0;100;0	1.86	False		ENSG00000103544	ENSG00000103544	HGNC:24641													
CA8	gene	CA8	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3  613227 				21885617		False	2	0;0;0	1.86	False		ENSG00000178538	ENSG00000178538	HGNC:1382													
COASY	gene	COASY	Expert Review Amber;Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis				30089828;24360804;27021474;36495139		False	2	0;100;0	1.86	False		ENSG00000068120	ENSG00000068120	HGNC:29932													
DAG1	gene	DAG1	Emory Genetics Laboratory;Expert Review Amber	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders		congenital muscular dystrophies						False	2	100;0;0	1.86	False		ENSG00000173402	ENSG00000173402	HGNC:2666													
DCC	gene	DCC	Expert Review Amber;Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542				28250456		False	2	0;100;0	1.86	False		ENSG00000187323	ENSG00000187323	HGNC:2701													
PHGDH	gene	PHGDH	Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neu-Laxova syndrome 1,  256520  				24836451		False	2	0;100;0	1.86	False		ENSG00000092621	ENSG00000092621	HGNC:8923													
TERT	gene	TERT	Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 4, OMIM:613989				17785587;34890115		False	2	0;100;0	1.86	False		ENSG00000164362	ENSG00000164362	HGNC:11730													
TSEN15	gene	TSEN15	Expert Review Amber;Literature	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 2F, OMIM:617026				27392077;25558065		False	2	0;0;0	1.86	False		ENSG00000198860	ENSG00000198860	HGNC:16791													
TSEN34	gene	TSEN34	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2C, OMIM:612390;pontocerebellar hypoplasia type 2C, MONDO:0012891				18711368;20952379		False	2	0;50;50	1.86	False		ENSG00000170892	ENSG00000170892	HGNC:15506													
TUBA8	gene	TUBA8	Emory Genetics Laboratory;Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria with optic nerve hypoplasia,  613180  				19896110, 27781032		False	2	100;0;0	1.86	False		ENSG00000183785	ENSG00000183785	HGNC:12410													
VPS53	gene	VPS53	Expert Review Amber;Literature;Other;UKGTN	Cerebellar hypoplasia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar Hypoplasia type 2E;Pontocerebellar Hypoplasia				PMID: 24577744		False	2	0;100;0	1.86	False		ENSG00000141252	ENSG00000141252	HGNC:25608