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.

8 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

  • 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

62 Entities

61 reviewed, 41 green

List Entity Reviews Mode of inheritance Details
62 Entitiess
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)
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)
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)
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 type 10
  • Pontocerebellar Hypoplasia
Tags
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
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia, type 1B, 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
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
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
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)
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)
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)
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)
SNX14
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 (AD)
  • Spinocerebellar ataxia, autosomal recessive 14 (AR)
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
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 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
  • Pontocerebellar Hypoplasia type 2A
  • Pontocerebellar Hypoplasia type 4
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2A, 277470
  • Pontocerebellar hypoplasia type 4, 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
  • complex cortical dysplasia with other brain malformations-7 , 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)
B4GAT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Tags
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)
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)
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)
SMPD4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
Phenotypes
  • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes
Tags
  • watchlist
Amber Amber List (moderate evidence)
TERT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • UKGTN
Phenotypes
  • dyskeratosis congenita-2
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)
PCLO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar Hypoplasia type 3
Tags
Red Red List (low evidence)
PI4KA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16 615768
Tags
Red Red List (low evidence)
TSEN15
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 2F 617026
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

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