Cerebellar and Pontocerebellar Hypoplasia (Version 1.65)

Description

This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.

Panel Activity

22 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Sebastian Lunke (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Chloe Stutterd (Victorian Clinical Genetics Services)
Michelle Dang (University of Melbourne)
Mark Cleghorn (Royal Melbourne Hospital)
Chirag Patel (Genetic Health Queensland)
sailajah vishwanathan (Other)
Ain Roesley (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)

111 Entities

111 reviewed, 76 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 111 Entitiess
Green Green List (high evidence)	ADAM22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 61 (MIM#617933) Tags
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Polymicrogyria, bilateral frontoparietal 606854 Polymicrogyria, bilateral perisylvian 615752 Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, MIM# 615809 Tags
Green Green List (high evidence)	ATAD3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 Tags SV/CNV
Green Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 Tags
Green Green List (high evidence)	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dias-Logan syndrome, MIM# 617101 Tags
Green Green List (high evidence)	BICD2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, BICD2-related (MONDO#0700092) Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellofaciodental syndrome, MIM# 616202 Tags
Green Green List (high evidence)	CA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 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, early-onset, severe, with neurodevelopmental deficits 618087 Tags
Green Green List (high evidence)	CAMK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 54, MIM# 617799 microcephaly intellectual disability behavioural problems Tags
Green Green List (high evidence)	CASK	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749 Tags
Green Green List (high evidence)	CHMP1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, MIM# 614961 Tags
Green Green List (high evidence)	CHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM #618438 Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 10, MIM# 615803 Tags founder
Green Green List (high evidence)	COASY	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 6 615643 Pontocerebellar hypoplasia, type 12 618266 Tags
Green Green List (high evidence)	CRNKL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CWF19L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 17 616127 Tags
Green Green List (high evidence)	DKC1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome Tags
Green Green List (high evidence)	EXOSC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green Green List (high evidence)	EXOSC5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia Tags
Green Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1C, MIM# 616081 Tags founder
Green Green List (high evidence)	EXOSC9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1D 618065 Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Walker–Warburg syndrome Tags
Green Green List (high evidence)	FTH1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodegeneration with brain iron accumulation 9, MIM# 620669 Tags
Green Green List (high evidence)	GEMIN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333 Tags
Green Green List (high evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Tags
Green Green List (high evidence)	GPAA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green Green List (high evidence)	HHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nivelon-Nivelon-Mabille syndrome 600092 Tags
Green Green List (high evidence)	ISPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 Walker–Warburg syndrome Tags
Green Green List (high evidence)	ITPR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, MIM# 206700 Tags
Green Green List (high evidence)	KIAA1109	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alkuraya-Kucinskas syndrome, MIM# 617822 Tags
Green Green List (high evidence)	LARGE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Walker Warburg syndrome Tags SV/CNV
Green Green List (high evidence)	MAB21L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome 618479 Tags
Green Green List (high evidence)	MACF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Lissencephaly 9 with complex brainstem malformation (MIM#618325) Tags
Green Green List (high evidence)	MAN2C1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of deglycosylation 2, MIM# 619775 Tags
Green Green List (high evidence)	MAST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273 Tags
Green Green List (high evidence)	MED27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Tags
Green Green List (high evidence)	MINPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 16, MIM# 619527 Tags
Green Green List (high evidence)	MSL3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Basilicata-Akhtar syndrome, OMIM # 301032 Tags
Green Green List (high evidence)	NOVA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859 Tags
Green Green List (high evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486 Tags
Green Green List (high evidence)	OXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000 Tags
Green Green List (high evidence)	PI4KA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531 Tags
Green Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (MIM#253280) Tags
Green Green List (high evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (MIM#614830) Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (MIM#613155) Tags
Green Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (MIM#613150) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 (MIM#613156) Tags
Green Green List (high evidence)	PPIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 14, MIM# 619301 microcephaly seizures Tags
Green Green List (high evidence)	PRDM13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 17, MIM# 619909 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Tags
Green Green List (high evidence)	PTF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pancreatic and cerebellar agenesis, MIM# 609069 Tags
Green Green List (high evidence)	RARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 6, MIM# 611523 Tags
Green Green List (high evidence)	RELN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 2 (Norman-Roberts type), MIM# 257320 Tags
Green Green List (high evidence)	ROBO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313) Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2D, MIM# 613811 Tags
Green Green List (high evidence)	SLC25A46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SMPD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622) Tags
Green Green List (high evidence)	SNX14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) Tags
Green Green List (high evidence)	SPTBN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 Tags
Green Green List (high evidence)	TBC1D23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 11, MIM# 617695 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 3 (MIM#613990) Revesz syndrome (MIM#268130) Tags
Green Green List (high evidence)	TMEM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MIM#615041) Tags
Green Green List (high evidence)	TOE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 7, MIM# 614969 Tags
Green Green List (high evidence)	TSEN15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 2F, MIM# 617026 Tags
Green Green List (high evidence)	TSEN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2B, MIM# 612389 Tags
Green Green List (high evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2A, MIM# 277470 Pontocerebellar hypoplasia type 4, MIM# 225753 Tags
Green Green List (high evidence)	TUBB3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 Tags
Green Green List (high evidence)	UFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 14, MIM# 617899 Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050 Tags
Green Green List (high evidence)	VPS4A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CIMDAG syndrome MIM# 619273 Tags
Green Green List (high evidence)	VPS53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 2E, MIM# 615851 Tags founder
Green Green List (high evidence)	VRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 1A, MIM# 607596 Tags
Green Green List (high evidence)	WDR37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurooculocardiogenitourinary syndrome (MIM#618652) Tags
Green Green List (high evidence)	WDR81	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Tags
Amber Amber List (moderate evidence)	ATOH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related Tags
Amber Amber List (moderate evidence)	AUTS2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags SV/CNV
Amber Amber List (moderate evidence)	CDK5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342 Tags
Amber Amber List (moderate evidence)	CEP55	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500 Tags
Amber Amber List (moderate evidence)	DDX3X	2 reviews	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 102, MIM# 300958 Tags
Amber Amber List (moderate evidence)	FKTN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes 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 Tags
Amber Amber List (moderate evidence)	HEATR5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures Tags
Amber Amber List (moderate evidence)	KAT5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 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 Tags
Amber Amber List (moderate evidence)	KCNC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13, MIM# 605259 Tags
Amber Amber List (moderate evidence)	MFN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, MFN2-related Tags
Amber Amber List (moderate evidence)	PCLO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Amber Amber List (moderate evidence)	RAB11B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807) Tags
Amber Amber List (moderate evidence)	SETD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome (MIM#616831) Tags
Amber Amber List (moderate evidence)	TBCK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900) Tags
Amber Amber List (moderate evidence)	TERT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989) Tags
Amber Amber List (moderate evidence)	TRIP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. Tags
Amber Amber List (moderate evidence)	TUBB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Phenotypes Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771) Tags
Amber Amber List (moderate evidence)	TUBB2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 Tags
Amber Amber List (moderate evidence)	VPS51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pontocerebellar hypoplasia, type 13, MIM# 618606 Tags
Red Red List (low evidence)	AIMP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia Tags
Red Red List (low evidence)	CDC40	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 15, MIM# 619302 microcephaly seizures Tags
Red Red List (low evidence)	EXOSC1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 1F, MIM# 619304 Tags
Red Red List (low evidence)	FOXP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Red Red List (low evidence)	FZD3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	INTS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 Tags
Red Red List (low evidence)	KIF26B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Tags
Red Red List (low evidence)	PIK3R5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Ataxia-oculomotor apraxia 3, OMIM #615217 Tags
Red Red List (low evidence)	PPP1CB	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506) Tags
Red Red List (low evidence)	PUS3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 55 (MIM#617051) Tags
Red Red List (low evidence)	RBL2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Severe motor and cognitive impairment Intellectual disability Brunet-Wagner neurodevelopmental syndrome MIM#619690 Tags
Red Red List (low evidence)	TRAPPC6B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862) Tags
Red Red List (low evidence)	TSEN34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2C, MIM# 612390 Tags
Red Red List (low evidence)	TUBA1A	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, MIM# 611603 Tags
Red Red List (low evidence)	TUBA8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Tags
Red Red List (low evidence)	WDR91	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags

Major version comments

2021-02-15 07:20 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Cerebellar and Pontocerebellar Hypoplasia (Version 1.65)

22 reviewers

111 Entities

111 reviewed, 76 green

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