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
AIMP1	gene	AIMP1	Expert Review Red;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia				30924036		False	1	0;0;100	1.80	True		ENSG00000164022	ENSG00000164022	HGNC:10648													
CDC40	gene	CDC40	Expert Review Red;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Pontocerebellar hypoplasia, type 15, MIM#	619302;microcephaly;seizures"				33220177		False	1	0;0;100	1.80	True		ENSG00000168438	ENSG00000168438	HGNC:17350													
CWF19L1	gene	CWF19L1	Expert Review;Expert Review Red	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Spinocerebellar ataxia, autosomal recessive 17	616127"				PMID:26197978;25361784;27016154;15981765		False	1	100;0;0	1.80	True		ENSG00000095485	ENSG00000095485	HGNC:25613													
EXOSC1	gene	EXOSC1	Expert Review Red;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Pontocerebellar hypoplasia, type 1F, MIM#	619304"				PMID: 33463720		False	1	0;0;100	1.80	True		ENSG00000171311	ENSG00000171311	HGNC:17286													
FOXP1	gene	FOXP1	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation with language impairment and with or without autistic features, MIM# 613670				26633542;28741757		False	1	0;100;0	1.80	True		ENSG00000114861	ENSG00000114861	HGNC:3823													
FZD3	gene	FZD3	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;100	1.80	True		ENSG00000104290	ENSG00000104290	HGNC:4041													
INTS8	gene	INTS8	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572				28542170		False	1	0;0;100	1.80	True		ENSG00000164941	ENSG00000164941	HGNC:26048													
KIF26B	gene	KIF26B	Expert Review;Expert Review Red	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis				30151950		False	1	0;0;100	1.80	True		ENSG00000162849	ENSG00000162849	HGNC:25484													
PIK3R5	gene	PIK3R5	Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ataxia-oculomotor apraxia 3, OMIM #615217				PubMed: 22065524		False	1	0;0;100	1.80	False		ENSG00000141506	ENSG00000141506	HGNC:30035													
PPP1CB	gene	PPP1CB	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506)				27264673;28211982;30236064		False	1	0;50;50	1.80	True		ENSG00000213639	ENSG00000213639	HGNC:9282													
PUS3	gene	PUS3	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 55 (MIM#617051)				27055666;30308082;30697592;31444731		False	1	0;0;100	1.80	True		ENSG00000110060	ENSG00000110060	HGNC:25461													
RBL2	gene	RBL2	Expert Review Red;Literature	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Severe motor and cognitive impairment;Intellectual disability;Brunet-Wagner neurodevelopmental syndrome MIM#619690				PMID: 33980986;32105419;9806916		False	1	0;100;0	1.80	True		ENSG00000103479	ENSG00000103479	HGNC:9894													
TRAPPC6B	gene	TRAPPC6B	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862)				28626029;28397838		False	1	0;0;100	1.80	True		ENSG00000182400	ENSG00000182400	HGNC:23066													
TSEN34	gene	TSEN34	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2C, MIM# 612390				18711368		False	1	0;0;100	1.80	True		ENSG00000170892	ENSG00000170892	HGNC:15506													
TUBA1A	gene	TUBA1A	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	Unknown	Lissencephaly 3, MIM# 611603						False	1	0;0;100	1.80	True		ENSG00000167552	ENSG00000167552	HGNC:20766													
TUBA8	gene	TUBA8	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180				19896110;31481326;28388629		False	1	0;0;100	1.80	True		ENSG00000183785	ENSG00000183785	HGNC:12410													
WDR91	gene	WDR91	Expert Review Red;Victorian Clinical Genetics Services	Cerebellar and Pontocerebellar Hypoplasia		Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;100	1.80	True		ENSG00000105875	ENSG00000105875	HGNC:24997