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
ATOH1	gene	ATOH1	Expert Review;Expert Review Amber;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related				35518571		False	2	0;100;0	1.100	True		ENSG00000172238	ENSG00000172238	HGNC:797													
AUTS2	gene	AUTS2	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 26, MIM# 615834				17211639;27075013;22872102;31474318		False	2	0;100;0	1.100	True		ENSG00000158321	ENSG00000158321	HGNC:14262													
CEP55	gene	CEP55	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500				28264986;32100459;28295209		False	2	0;100;0	1.100	True		ENSG00000138180	ENSG00000138180	HGNC:1161													
DDX3X	gene	DDX3X	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	Other	Mental retardation, X-linked 102, MIM# 300958				26235985;30936465		False	2	0;100;0	1.100	True		ENSG00000215301	ENSG00000215301	HGNC:2745													
FKTN	gene	FKTN	Expert Review;Expert Review Amber	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	253800;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4	613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	611588;Walker-Warburg syndrome"				PMID: 17878207;25821721;19342235;18177472;12601708		False	2	0;100;0	1.100	True		ENSG00000106692	ENSG00000106692	HGNC:3622													
HEATR5B	gene	HEATR5B	Expert Review Amber;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related				33824466		False	2	0;100;0	1.100	True		ENSG00000008869	ENSG00000008869	HGNC:29273													
KAT5	gene	KAT5	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103;Severe global developmental delay;Intellectual disability;Seizures;Microcephaly;Behavioral abnormality;Sleep disturbance;Morphological abnormality of the central nervous system;Short stature;Oral cleft;Abnormality of the face				32822602		False	2	0;100;0	1.100	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000172977	ENSG00000172977	HGNC:5275													
KCNC3	gene	KCNC3	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinocerebellar ataxia 13, MIM# 605259				16501573;25497598;25981959		False	2	0;100;0	1.100	True		ENSG00000131398	ENSG00000131398	HGNC:6235													
MED29	gene	MED29	Expert Review Amber;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, MONDO:0020135, MED29-related				PMID: 40745490		False	2	0;100;0	1.100	False		ENSG00000063322	ENSG00000063322	HGNC:23074													
MFN2	gene	MFN2	Expert Review Amber;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial disease, MONDO:0044970, MFN2-related				PMID: 37804319		False	2	0;100;0	1.100	True		ENSG00000116688	ENSG00000116688	HGNC:16877													
NUDCD2	gene	NUDCD2	Expert Review Amber;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple congenital anomalies (MONDO:0019042), NUDCD2-related				37272762		False	2	0;100;0	1.100	True		ENSG00000170584	ENSG00000170584	HGNC:30535													
RAB11B	gene	RAB11B	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)				29106825		False	2	0;100;0	1.100	True		ENSG00000185236	ENSG00000185236	HGNC:9761													
SETD2	gene	SETD2	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Luscan-Lumish syndrome (MIM#616831)				31643139;31474318;26084711		False	2	0;100;0	1.100	True		ENSG00000181555	ENSG00000181555	HGNC:18420													
TBCK	gene	TBCK	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900)				27040692;30103036;27040691		False	2	0;100;0	1.100	True		ENSG00000145348	ENSG00000145348	HGNC:28261													
TERT	gene	TERT	Expert Review;Expert Review Amber	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989)				17785587		False	2	0;100;0	1.100	True		ENSG00000164362	ENSG00000164362	HGNC:11730													
TRIP4	gene	TRIP4	Expert Review Amber;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.				PMID: 34075209		False	2	0;100;0	1.100	True		ENSG00000103671	ENSG00000103671	HGNC:12310													
TUBB	gene	TUBB	Expert Review;Expert Review Amber	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771)				23246003		False	2	0;100;0	1.100	True		ENSG00000196230	ENSG00000196230	HGNC:20778													
TUBB2B	gene	TUBB2B	Expert Review Amber;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031				19465910		False	2	0;100;0	1.100	True		ENSG00000137285	ENSG00000137285	HGNC:30829