Cerebellar hypoplasia (Version 1.73)

Description

Cerebellar hypoplasia eligibility statement:

Cerebellar hypoplasia inclusion criteria (36515)
•	Cerebellar or ponto-cerebellar hypoplasia on MRI brain scan

Cerebellar hypoplasia exclusion criteria (36515)
•	Findings characteristic of Joubert syndrome (in which case recruit to Joubert syndrome category)
•	Known genetic cause
•	Evidence of causative prenatal infection such as CMV (this usually causes more widespread brain abnormalities such as calcification not just cerebellar hypoplasia)

Prior genetic testing guidance (36515)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Cerebellar hypoplasia prior genetic testing genes (36515)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 -	Gene panel including ITPR1, SPTBN2, KCNC3, CASK, OPHN1

Closing statement (36515)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

16 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
emma baple (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Karen Stals (Royal Devon and Exeter Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Michael Coleman (University of Cambridge)

Group: GeCIP domain
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Faculty of Health, University of Plymouth)

Group: Other
Workplace: Other

76 Entities

75 reviewed, 47 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 76 Entitiess
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polymicrogyria, bilateral frontoparietal 606854 Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes pontocerebellar hypoplasia type 9, 615809 Tags
Green Green List (high evidence)	ATAD3A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Harel-Yoon syndrome, OMIM:617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 Tags
Green Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11 congenital muscular dystrophies Tags
Green Green List (high evidence)	B4GAT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Tags
Green Green List (high evidence)	CACNA1G	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Spinocerebellar ataxia 42 616795 Tags missense
Green Green List (high evidence)	CASK	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia FG syndrome 4 Mental retardation, with or without nystagmus Pontocerebellar Hypoplasia Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 FG syndrome 4, 300422 Mental retardation, with or without nystagmus, 300422 Tags
Green Green List (high evidence)	CHMP1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar Hypoplasia type 8 Pontocerebellar Hypoplasia Pontocerebellar hypoplasia,type 8,614961 Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other UKGTN Phenotypes Pontocerebellar hypoplasia 10 OMIM:615803 Pontocerebellar hypoplasia type 10 MONDO:0014349 Tags founder-effect
Green Green List (high evidence)	CWF19L1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Tags
Green Green List (high evidence)	DKC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes X-linked dyskeratosis congenita Tags
Green Green List (high evidence)	EXOSC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fukuyama congenital muscular dystrophy Fukuyama Congenital Muscular Dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	GMPPB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	ISPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags new-gene-name
Green Green List (high evidence)	ITPR1	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 15 Spinocerebellar ataxia 29, congenital nonprogressive Gillespie syndrome 206700 Tags
Green Green List (high evidence)	KCNC3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 13 Tags
Green Green List (high evidence)	LARGE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	MACF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Lissencephaly 9 with complex brainstem malformation, 618325 Tags
Green Green List (high evidence)	OPHN1	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green Green List (high evidence)	PI4KA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags
Green Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Tags
Green Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	PRDM13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 17, OMIM:619909 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761 Tags
Green Green List (high evidence)	PTF1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pancreatic and cerebellar agenesis, 609069 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar Hypoplasia type 6 Pontocerebellar Hypoplasia Pontocerebellar hypoplasia, type 6, 611523 Tags
Green Green List (high evidence)	RELN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Lissencephaly 2, 257320 Tags
Green Green List (high evidence)	ROBO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313 Tags
Green Green List (high evidence)	SEPSECS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar Hypoplasia type 2D Pontocerebellar Hypoplasia Pontocerebellar hypoplasia type 2D, 613811 Tags
Green Green List (high evidence)	SMPD4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Research Phenotypes cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes Tags
Green Green List (high evidence)	SNX14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature UKGTN Phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 Tags
Green Green List (high evidence)	SPTBN2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyskeratosis congenita, autosomal dominant 3 613990 Tags
Green Green List (high evidence)	TMEM5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags new-gene-name
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 7 614969 Tags
Green Green List (high evidence)	TSEN2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar Hypoplasia type 2B Pontocerebellar Hypoplasia Pontocerebellar hypoplasia type 2B,612389 Tags
Green Green List (high evidence)	TSEN34	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar Hypoplasia type 2C Pontocerebellar Hypoplasia Pontocerebellar hypoplasia type 2C,612390 Tags
Green Green List (high evidence)	TSEN54	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753 Tags
Green Green List (high evidence)	TUBA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 3 6,1603 Tags
Green Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 Tags
Green Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cortical dysplasia, complex, with other brain malformations 1 614039 Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Cerebellar Hypoplasia Tags
Green Green List (high evidence)	VRK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Literature Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar Hypoplasia type 1A Pontocerebellar Hypoplasia with infantile SMA Pontocerebellar Hypoplasia with anterior horn cell disease Pontocerebellar Hypoplasia Pontocerebellar hypoplasia type 1A,607596 Tags
Green Green List (high evidence)	WDR81	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Tags
Amber Amber List (moderate evidence)	ATP8A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 Tags
Amber Amber List (moderate evidence)	C16orf62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber Amber List (moderate evidence)	CA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 Tags
Amber Amber List (moderate evidence)	COASY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis Tags watchlist
Amber Amber List (moderate evidence)	DAG1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Amber Phenotypes congenital muscular dystrophies Tags
Amber Amber List (moderate evidence)	DCC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542 Tags structural-variant watchlist
Amber Amber List (moderate evidence)	HEATR5B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber Amber List (moderate evidence)	PHGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Neu-Laxova syndrome 1, 256520 Tags
Amber Amber List (moderate evidence)	TERT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Tags
Amber Amber List (moderate evidence)	TSEN15	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia, type 2F, OMIM:617026 Tags
Amber Amber List (moderate evidence)	TUBA8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 Tags watchlist
Amber Amber List (moderate evidence)	VPS53	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other UKGTN Phenotypes Pontocerebellar Hypoplasia type 2E Pontocerebellar Hypoplasia Tags
Red Red List (low evidence)	BRF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Cerebellofaciodental syndrome 616202 Tags
Red Red List (low evidence)	CDK5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Lissencephaly 7 with cerebellar hypoplasia 616342 Tags
Red Red List (low evidence)	EXOSC8	1 review 1 red	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Pontocerebellar hypoplasia,type 1C, 616081 Tags
Red Red List (low evidence)	FRMD4A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 Tags
Red Red List (low evidence)	NMNAT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Research Phenotypes 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 Tags
Red Red List (low evidence)	PCLO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar Hypoplasia type 3 Tags
Red Red List (low evidence)	PMPCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 2 213200 AR Tags
Red Red List (low evidence)	POMK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249 Tags
Red Red List (low evidence)	STUB1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Phenotypes 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 Tags
Red Red List (low evidence)	TUBB	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature UKGTN Phenotypes Cortical dysplasia, complex, with other brain malformations 6, 615771 Tags
No list No list	AHDC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes intellectual disability Cerebellar hypoplasia Tags
No list No list	AUTS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes intellectual disability Cerebellar hypoplasia Tags
No list No list	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes intellectual disability Cerebellar hypoplasia Tags
No list No list	FOXP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Mental retardation with language impairment and with or without autistic features Tags
No list No list	L1CAM	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Cerebellar hypoplasia Tags
No list No list	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Cerebellar hypoplasia Tags
No list No list	WDR37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Neurooculocardiogenitourinary syndrome Tags

Cerebellar hypoplasia (Version 1.73)

16 reviewers

76 Entities

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