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Cerebellar hypoplasia v1.73 COASY Sarah Leigh Publications for gene: COASY were set to 30089828; 24360804
Cerebellar hypoplasia v1.72 HEATR5B Karen Stals changed review comment from: Four affected children from two families presenting with pontocerebellar hypoplasia with neonatal seizures, severe ID and motor delay. Additional family identified through the R14 WGS service in the Exeter Genomics Laboratory with the causative variant co-segregating in multiple affected family members.; to: Four affected children from two families presenting with pontocerebellar hypoplasia with neonatal seizures, severe ID and motor delay reported by Ghosh et al 2021. Additional family identified through the R14 WGS service in the Exeter Genomics Laboratory with the causative variant co-segregating in multiple affected family members.
Cerebellar hypoplasia v1.72 HEATR5B Karen Stals reviewed gene: HEATR5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33824466; Phenotypes: Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebellar hypoplasia v1.72 TUBB2B Arina Puzriakova Phenotypes for gene: TUBB2B were changed from complex cortical dysplasia with other brain malformations-7 , 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Cerebellar hypoplasia v1.71 CASK Arina Puzriakova Publications for gene: CASK were set to
Cerebellar hypoplasia v1.70 TERT Arina Puzriakova Publications for gene: TERT were set to 17785587; 16247010
Cerebellar hypoplasia v1.69 TERT Arina Puzriakova reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: 17785587, 34890115; Phenotypes: Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia v1.69 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Cerebellar hypoplasia v1.68 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from dyskeratosis congenita-2 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Cerebellar hypoplasia v1.67 STUB1 Sarah Leigh Added comment: Comment on mode of inheritance: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous STUB1 variants have been reported in both Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 and Spinocerebellar ataxia 48, OMIM:618093. PMIDs 34906452; 35493319 report digenic occurrence of heterozygous STUB1 variants, with TBP_CAG expansions of 41-46. They question the validy of Spinocerebellar ataxia 48 (OMIM:618093) as a condition and whether it should be included into Spinocerebellar ataxia 17 (OMIM:607136).
Cerebellar hypoplasia v1.67 STUB1 Sarah Leigh Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar hypoplasia v1.66 STUB1 Sarah Leigh Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16 615768 to 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
Cerebellar hypoplasia v1.65 STUB1 Sarah Leigh Publications for gene: STUB1 were set to 24312598
Cerebellar hypoplasia v1.64 PRDM13 Arina Puzriakova Phenotypes for gene: PRDM13 were changed from Cerebellar hypoplasia to Pontocerebellar hypoplasia, type 17, OMIM:619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761
Cerebellar hypoplasia v1.63 PRDM13 Ivone Leong Classified gene: PRDM13 as Green List (high evidence)
Cerebellar hypoplasia v1.63 PRDM13 Ivone Leong Added comment: Comment on list classification: New gene added by Julia Baptista (Faculty of Health, University of Plymouth). There is enough evidence to support a gene-disease association. Therefore this gene has been given a Green rating.
Cerebellar hypoplasia v1.63 PRDM13 Ivone Leong Gene: prdm13 has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.62 PRDM13 Julia Baptista gene: PRDM13 was added
gene: PRDM13 was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 35390279; 34730112
Phenotypes for gene: PRDM13 were set to Cerebellar hypoplasia
Review for gene: PRDM13 was set to GREEN
Added comment: Coolen and colleagues (PMID:35390279) reported eight individuals from four families of different origins with loss-of-function PRDM13 variants. Phenotypic findings included cerebellar hypoplasia and perinatal lethality associated with severe brainstem dysfunctions (e.g., feeding and respiratory difficulties, central apnea, bradycardia).

Whittaker et al (PMID: 34730112) had previously described two families from Malta with a homozygous PRDM13 deletion and intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty
Sources: Literature
Cerebellar hypoplasia v1.62 SPTBN2 Arina Puzriakova Phenotypes for gene: SPTBN2 were changed from Spinocerebellar ataxia 5 (AD); Spinocerebellar ataxia, autosomal recessive 14 (AR) to Spinocerebellar ataxia 5, OMIM:600224; Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Cerebellar hypoplasia v1.61 EXOSC3 Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from Pontocerebellar Hypoplasia type 1B; Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia, type 1B, 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Cerebellar hypoplasia v1.60 PI4KA Ivone Leong Classified gene: PI4KA as Green List (high evidence)
Cerebellar hypoplasia v1.60 PI4KA Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green. This gene associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is now enough evidence to support a gene-disease association.
Cerebellar hypoplasia v1.60 PI4KA Ivone Leong Gene: pi4ka has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.59 PI4KA Ivone Leong Added comment: Comment on publications: PMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years.

PMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset.
Cerebellar hypoplasia v1.59 PI4KA Ivone Leong Publications for gene: PI4KA were set to 25855803
Cerebellar hypoplasia v1.58 PI4KA Ivone Leong Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531 to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Cerebellar hypoplasia v1.57 B4GAT1 Ivone Leong Classified gene: B4GAT1 as Green List (high evidence)
Cerebellar hypoplasia v1.57 B4GAT1 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. Hydrocephalus is part of the phenotype. This gene should be rated Green at the next review.

This gene is also recommended for promotion to Green status on the Malformations of cortical development (v2.59) panel. With the following review from Zornitza Stark:
"Two families and two animal models. Extensive brain abnormalities reported.
Zornitza Stark (Australian Genomics), 24 Aug 2020"
Cerebellar hypoplasia v1.57 B4GAT1 Ivone Leong Gene: b4gat1 has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.56 B4GAT1 Ivone Leong Phenotypes for gene: B4GAT1 were changed from 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 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Cerebellar hypoplasia v1.55 B4GAT1 Ivone Leong Publications for gene: B4GAT1 were set to 23359570
Cerebellar hypoplasia v1.54 SNX14 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" to "BIALLELIC, autosomal or pseudoautosomal". No evidence of monoallelic forms of the disease was found. MOI reported in OMIM and Gene2Phenotype is Biallelic.
Cerebellar hypoplasia v1.54 SNX14 Ivone Leong Mode of inheritance for gene: SNX14 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia v1.53 L1CAM Dmitrijs Rots gene: L1CAM was added
gene: L1CAM was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: L1CAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: L1CAM were set to PMID: 3147431
Phenotypes for gene: L1CAM were set to Cerebellar hypoplasia
Penetrance for gene: L1CAM were set to Complete
Review for gene: L1CAM was set to GREEN
gene: L1CAM was marked as current diagnostic
Added comment: In PMID: 31474318 found 3 patient with DNM variant and cerebellar hypoplasia, and additionally summarized another 13 from the literature (see suplements of the paper).
Sources: Literature
Cerebellar hypoplasia v1.53 PDGFRB Dmitrijs Rots gene: PDGFRB was added
gene: PDGFRB was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 31474318
Phenotypes for gene: PDGFRB were set to Cerebellar hypoplasia
Penetrance for gene: PDGFRB were set to Complete
Review for gene: PDGFRB was set to GREEN
Added comment: In PMID: 31474318 found 4 patients with DNM variants and cerebellar hypoplasia, and additionally summarized another 1 from the literature (see suplements of the paper).
Sources: Literature
Cerebellar hypoplasia v1.53 FOXP1 Dmitrijs Rots gene: FOXP1 was added
gene: FOXP1 was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP1 were set to PMID: 31474318
Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features
Penetrance for gene: FOXP1 were set to Complete
Review for gene: FOXP1 was set to GREEN
gene: FOXP1 was marked as current diagnostic
Added comment: In PMID: 31474318 found 11 patient with DNM AHDC1 variant and cerebellar hypoplasia (see suplements of the paper).
Sources: Literature
Cerebellar hypoplasia v1.53 WDR37 Dmitrijs Rots gene: WDR37 was added
gene: WDR37 was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR37 were set to PMID: 31474318
Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome
Penetrance for gene: WDR37 were set to Complete
Review for gene: WDR37 was set to GREEN
gene: WDR37 was marked as current diagnostic
Added comment: In PMID: 31474318 found 5 patient with DNM WDR37 variant and cerebellar hypoplasia (see suplements of the paper).
Sources: Literature
Cerebellar hypoplasia v1.53 BCL11A Dmitrijs Rots gene: BCL11A was added
gene: BCL11A was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11A were set to PMID: 31474318
Phenotypes for gene: BCL11A were set to intellectual disability; Cerebellar hypoplasia
Penetrance for gene: BCL11A were set to Complete
Review for gene: BCL11A was set to GREEN
Added comment: In PMID: 31474318 found 3 patient with DNM AHDC1 variant and cerebellar hypoplasia, and additionally summarized another 9 from the literature (see suplements of the paper).
Sources: Literature
Cerebellar hypoplasia v1.53 AUTS2 Dmitrijs Rots gene: AUTS2 was added
gene: AUTS2 was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AUTS2 were set to PMID: 31474318
Phenotypes for gene: AUTS2 were set to intellectual disability; Cerebellar hypoplasia
Penetrance for gene: AUTS2 were set to Complete
Review for gene: AUTS2 was set to AMBER
Added comment: In PMID: 31474318 found in 2/5 patient with DNM AUTS2 variant and cerebellar hypoplasia (see suplements of the paper).
Sources: Literature
Cerebellar hypoplasia v1.53 AHDC1 Dmitrijs Rots gene: AHDC1 was added
gene: AHDC1 was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AHDC1 were set to PMID: 31474318
Phenotypes for gene: AHDC1 were set to intellectual disability; Cerebellar hypoplasia
Penetrance for gene: AHDC1 were set to Complete
Review for gene: AHDC1 was set to GREEN
Added comment: In PMID: 31474318 found one patient with DNM AHDC1 variant and cerebellar hypoplasia, and additionally summarized another 4 from the literature (see suplements of the paper).
Sources: Literature
Cerebellar hypoplasia v1.53 HEATR5B Ivone Leong Entity copied from Intellectual disability v3.1188
Cerebellar hypoplasia v1.53 HEATR5B Ivone Leong gene: HEATR5B was added
gene: HEATR5B was added to Cerebellar hypoplasia. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: HEATR5B.
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia, MONDO:0020135; intellectual disability, MONDO:0001071; seizures
Cerebellar hypoplasia v1.52 ATAD3A Arina Puzriakova Classified gene: ATAD3A as Green List (high evidence)
Cerebellar hypoplasia v1.52 ATAD3A Arina Puzriakova Added comment: Comment on list classification: Upgraded from Amber to Green, as the number of unrelated families (at least 7) with cerebellar/pontocerebellar hypoplasia and biallelic SNVs in ATAD3A reaches the threshold for inclusion on this panel.
Cerebellar hypoplasia v1.52 ATAD3A Arina Puzriakova Gene: atad3a has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.51 ATAD3A Arina Puzriakova changed review comment from: Comment on mode of inheritance: Changed MOI from 'Both mono- and biallelic' to 'Biallelic' only.

ATAD3A is associated with Harel-Yoon syndrome (MIM# 617183) with both dominant and recessive patterns of inheritance. However, only the family with the biallelic form displayed cerebellar atrophy (PMID: 27640307; 32607449; 33845882). Brain MRI results have been normal in heterozygous cases to date.

Furthermore, biallelic variants in ATAD3A are also associated with another phenotype comprising neonatal lethal pontocerebellar hypoplasia (MIM# 618810) - at least 13 unrelated families in literature, including 2 families with SNVs (PMID: 29053797; 31727539) and 11 families with deletions affecting ATAD3A (PMID: 27640307; 28549128; 29053797; 33845882); to: Comment on mode of inheritance: Changed MOI from 'Both mono- and biallelic' to 'Biallelic' only.

ATAD3A is associated with Harel-Yoon syndrome (MIM# 617183) with both dominant and recessive patterns of inheritance. However, only families with the biallelic form displayed cerebellar atrophy (PMID: 27640307; 32607449; 33845882). Brain MRI results have been normal in heterozygous cases to date.

Furthermore, biallelic variants in ATAD3A are also associated with another phenotype comprising neonatal lethal pontocerebellar hypoplasia (MIM# 618810) - at least 13 unrelated families in literature, including 2 families with SNVs (PMID: 29053797; 31727539) and 11 families with deletions affecting ATAD3A (PMID: 27640307; 28549128; 29053797; 33845882)
Cerebellar hypoplasia v1.51 ATAD3A Arina Puzriakova edited their review of gene: ATAD3A: Changed rating: GREEN; Changed publications to: 27640307, 28549128, 29053797, 31727539, 32607449, 33845882; Changed phenotypes to: Harel-Yoon syndrome, OMIM:617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia v1.51 ATAD3A Arina Puzriakova Publications for gene: ATAD3A were set to 27640307; 25529582; 28549128; 29898916
Cerebellar hypoplasia v1.50 ATAD3A Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'Both mono- and biallelic' to 'Biallelic' only.

ATAD3A is associated with Harel-Yoon syndrome (MIM# 617183) with both dominant and recessive patterns of inheritance. However, only the family with the biallelic form displayed cerebellar atrophy (PMID: 27640307; 32607449; 33845882). Brain MRI results have been normal in heterozygous cases to date.

Furthermore, biallelic variants in ATAD3A are also associated with another phenotype comprising neonatal lethal pontocerebellar hypoplasia (MIM# 618810) - at least 13 unrelated families in literature, including 2 families with SNVs (PMID: 29053797; 31727539) and 11 families with deletions affecting ATAD3A (PMID: 27640307; 28549128; 29053797; 33845882)
Cerebellar hypoplasia v1.50 ATAD3A Arina Puzriakova Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia v1.49 ATAD3A Arina Puzriakova Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Cerebellar hypoplasia v1.48 TSEN54 Arina Puzriakova Publications for gene: TSEN54 were set to 18711368; 20956791; 20952379; 20301773
Cerebellar hypoplasia v1.47 TSEN54 Arina Puzriakova Publications for gene: TSEN54 were set to PMID: 21368912; PMID: 18711368; PMID: 20956791; PMID: 20952379;
Cerebellar hypoplasia v1.46 TSEN54 Arina Puzriakova Phenotypes for gene: TSEN54 were changed from Pontocerebellar Hypoplasia type 5; Pontocerebellar Hypoplasia type 2A; Pontocerebellar Hypoplasia type 4; Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753 to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
Cerebellar hypoplasia v1.45 TSEN15 Arina Puzriakova Classified gene: TSEN15 as Amber List (moderate evidence)
Cerebellar hypoplasia v1.45 TSEN15 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber - PMID:27392077 report on 2 families with PCH and biallelic variants in this gene (brain MRI was not available in third family). Additional cases required prior to inclusion as diagnostic-grade.
Cerebellar hypoplasia v1.45 TSEN15 Arina Puzriakova Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.44 TSEN15 Arina Puzriakova Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F 617026 to Pontocerebellar hypoplasia, type 2F, OMIM:617026
Cerebellar hypoplasia v1.43 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia type 10; Pontocerebellar HypoplasiaPontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Cerebellar hypoplasia v1.42 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia type 10; Pontocerebellar Hypoplasia to Pontocerebellar Hypoplasia type 10; Pontocerebellar HypoplasiaPontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Cerebellar hypoplasia v1.41 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Cerebellar hypoplasia v1.41 C16orf62 Sarah Leigh Classified gene: C16orf62 as Amber List (moderate evidence)
Cerebellar hypoplasia v1.41 C16orf62 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 31712251).
Cerebellar hypoplasia v1.41 C16orf62 Sarah Leigh Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.40 C16orf62 Sarah Leigh gene: C16orf62 was added
gene: C16orf62 was added to Cerebellar hypoplasia. Sources: Literature
new-gene-name tags were added to gene: C16orf62.
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 31712251
Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome
Review for gene: C16orf62 was set to AMBER
Added comment: The HGNC approved name for this gene is: VPS35 endosomal protein sorting factor like (VPS35L)
Sources: Literature
Cerebellar hypoplasia v1.39 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Tag watchlist was removed from gene: SMPD4.
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty commented on gene: SMPD4: As a result of watchlist tag audit the watchlist tag was removed from SMPD4- this is now a green gene.
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Classified gene: SMPD4 as Green List (high evidence)
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, support gene-disease association.
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.38 SMPD4 Louise Daugherty Added comment: Comment on publications: Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Cerebellar hypoplasia v1.38 SMPD4 Louise Daugherty Publications for gene: SMPD4 were set to
Cerebellar hypoplasia v1.37 NMNAT2 Louise Daugherty Classified gene: NMNAT2 as Red List (low evidence)
Cerebellar hypoplasia v1.37 NMNAT2 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: Although appropriate to include on the panel the gene has been rated Red until there is more information to support gene-disease association. The current information in the literature does not support a Green rating as suggested by external reviewer, there are not sufficient cases, only an animal model (PMID:31136762)
Cerebellar hypoplasia v1.37 NMNAT2 Louise Daugherty Gene: nmnat2 has been classified as Red List (Low Evidence).
Cerebellar hypoplasia v1.36 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Cerebellar hypoplasia. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31136762
Phenotypes for gene: NMNAT2 were set to 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
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398)
Sources: Research
Cerebellar hypoplasia v1.34 TSEN15 Rebecca Foulger Publications for gene: TSEN15 were set to 27392077
Cerebellar hypoplasia v1.33 TSEN15 Rebecca Foulger commented on gene: TSEN15
Cerebellar hypoplasia v1.33 MACF1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels.
Cerebellar hypoplasia v1.33 MACF1 Rebecca Foulger Mode of pathogenicity for gene: MACF1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Classified gene: MACF1 as Green List (high evidence)
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Added comment: Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716.
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Gene: macf1 has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.31 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, 618325
Added comment: Added MACF1 to 'Cerebellar hypoplasia' panel on advice from Helen Brittain after MACF1 was reviewed by Sarah Leigh on the 'Genetic Epilepsy Syndromes' and 'Intellectual disability' panels. PMID:30471716 (Dobyns et al 2018) recognized a complex brainstem malformation in three unrelated children with MACF1 variants. They searched their large brain-malformation databases and found another five children with this malformation (as well as one with a less severe variant). The brain malformation comprised posterior predominant lissencephaly and midline crossing defects consisting of absent anterior commissure and a striking W-shaped brainstem malformation caused by small or absent pontine crossing fibers.
Sources: Literature
Cerebellar hypoplasia v1.30 ATAD3A Louise Daugherty Publications for gene: ATAD3A were set to 27640307; 25529582
Cerebellar hypoplasia v1.29 ATAD3A Louise Daugherty Classified gene: ATAD3A as Amber List (moderate evidence)
Cerebellar hypoplasia v1.29 ATAD3A Louise Daugherty Gene: atad3a has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Classified gene: ATAD3A as Green List (high evidence)
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Added comment: Comment on list classification: Based on current information in the literature in view of the number of cases with Cerebellar hypoplasia verses the there is not enough evidence to support gene-disease association rating of this gene to Green. Added watchlist tag.
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Gene: atad3a has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.27 ATAD3A Louise Daugherty Publications for gene: ATAD3A were set to 27640307
Cerebellar hypoplasia v1.26 ATAD3A Louise Daugherty Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome 617183 to Harel-Yoon syndrome, 617183
Cerebellar hypoplasia v1.25 ATAD3A Julia Baptista gene: ATAD3A was added
gene: ATAD3A was added to Cerebellar hypoplasia. Sources: Expert Review
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome 617183
Review for gene: ATAD3A was set to GREEN
gene: ATAD3A was marked as current diagnostic
Added comment: Cerebellar hypoplasia reported in 2/7 families (PMID:27640307).
Sources: Expert Review
Cerebellar hypoplasia v1.25 ISPD Louise Daugherty commented on gene: ISPD
Cerebellar hypoplasia v1.25 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Cerebellar hypoplasia v1.25 COASY Louise Daugherty Classified gene: COASY as Amber List (moderate evidence)
Cerebellar hypoplasia v1.25 COASY Louise Daugherty Added comment: Comment on list classification: New gene. Rated Amber until more cases on gene and disease association are reported.
Cerebellar hypoplasia v1.25 COASY Louise Daugherty Gene: coasy has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.24 COASY Louise Daugherty commented on gene: COASY: added watchlist tag
Cerebellar hypoplasia v1.24 COASY Louise Daugherty gene: COASY was added
gene: COASY was added to Cerebellar hypoplasia. Sources: Literature
watchlist tags were added to gene: COASY.
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 30089828; 24360804
Phenotypes for gene: COASY were set to Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
Review for gene: COASY was set to AMBER
Added comment: From Dijk et al. (2018) PMID: 30089828 variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis. A single variant was identified in 4 individuals in 2 unrelated families with PCH, prenatal onset microcephaly, and arthrogryposis. In both families, the variant c.[1549_1550delAG]; [1486-3 C>G] segregated wth the phenotype. No CoA synthase protein was detected in patient cells by immunoblot analysis and CoA synthase activity was virtually absent. Partial CoA synthase defects were previously described by Dusi et al. (2014) PMID: 24360804 as a cause of COASY Protein-Associated Neurodegeneration (CoPAN), a type of Neurodegeneration and Brain Iron Accumulation (MIM: 615643). Dijk et al. (2018) PMID: 30089828 demonstrate that near complete loss of function variants in COASY are associated with lethal PCH and arthrogryposis.
Sources: Literature
Cerebellar hypoplasia v1.23 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Cerebellar hypoplasia v1.23 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Cerebellar hypoplasia v1.23 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Demoted from Green to Amber based on re-review of evidence. Demotion agreed by Clinical Fellow Helen Brittain.

TUBA8 was originally rated Green on the panel because TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180) and TUBA8 is on the UKGTN 43 gene panel for brain malformations:
https://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/brain-malformation-disorders-cortical-43-gene-panel-886/.

However, the reported evidence comes from one 2009 paper (PMID:19896110) with 4 literature cases coming from 2 consaguineous families (1 variant); at least PMID:25008804 questions whether the families are related. A 2017 paper identifies an additional VUS (compound heterozygous) in a chinese EE patient (PMID:29588952).

Anna de Burca confirmed that there are lots of cases with CNVs involving TUBA8 in DECIPHER but there are only two cases with SNVs in the gene. One of them is classified as unknown pathogenicity, the other likely benign.

I contacted Usha Kini at Oxford, and also the Leeds and Cardiff genetic testing groups (as recommended by Usha) since they all offer cortical malformation panels. All three confirmed (pers. comm. via email) that they have no further cases for TUBA8.

The literature evidence and communications from Oxford, Leeds and Cardiff all support demotion of TUBA8 to Amber rating: The phenotype is still appropriate for the panel but insufficient cases for diagnostic rating.

Added 'watchlist' tag to look out for further cases.
Cerebellar hypoplasia v1.23 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.21 Ellen McDonagh List of related panels changed from Cerebellar Hypoplasia to Cerebellar Hypoplasia; Pontine tegmental cap dysplasia
Cerebellar hypoplasia v1.20 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Cerebellar hypoplasia v1.20 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia SMPD4 Arianna Tucci Added gene to panel
Cerebellar hypoplasia CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Cerebellar hypoplasia CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Cerebellar hypoplasia CACNA1G Sarah Leigh Added gene to panel
Cerebellar hypoplasia TMEM5 Louise Daugherty commented on TMEM5
Cerebellar hypoplasia DCC Sarah Leigh classified DCC as amber
Cerebellar hypoplasia DCC Sarah Leigh added DCC to panel
Cerebellar hypoplasia DCC Sarah Leigh reviewed DCC
Cerebellar hypoplasia ROBO3 Sarah Leigh classified ROBO3 as green
Cerebellar hypoplasia ROBO3 Sarah Leigh added ROBO3 to panel
Cerebellar hypoplasia ROBO3 Sarah Leigh reviewed ROBO3
Cerebellar hypoplasia TOE1 Helen Brittain marked TOE1 as ready
Cerebellar hypoplasia TOE1 Helen Brittain classified TOE1 as green
Cerebellar hypoplasia TOE1 Helen Brittain added TOE1 to panel
Cerebellar hypoplasia TOE1 Helen Brittain reviewed TOE1
Cerebellar hypoplasia Ellen McDonagh promoted panel to version 1
Cerebellar hypoplasia LARGE Louise Daugherty commented on LARGE
Cerebellar hypoplasia CLP1 Alice Gardham marked CLP1 as ready
Cerebellar hypoplasia PMPCA Alice Gardham marked PMPCA as ready
Cerebellar hypoplasia PMPCA Alice Gardham added PMPCA to panel
Cerebellar hypoplasia PMPCA Alice Gardham reviewed PMPCA
Cerebellar hypoplasia STUB1 Alice Gardham added STUB1 to panel
Cerebellar hypoplasia STUB1 Alice Gardham reviewed STUB1
Cerebellar hypoplasia ATP8A2 Alice Gardham classified ATP8A2 as amber
Cerebellar hypoplasia ATP8A2 Alice Gardham added ATP8A2 to panel
Cerebellar hypoplasia ATP8A2 Alice Gardham reviewed ATP8A2
Cerebellar hypoplasia CA8 Alice Gardham classified CA8 as amber
Cerebellar hypoplasia CA8 Alice Gardham added CA8 to panel
Cerebellar hypoplasia CA8 Alice Gardham reviewed CA8
Cerebellar hypoplasia WDR81 Alice Gardham marked WDR81 as ready
Cerebellar hypoplasia WDR81 Alice Gardham classified WDR81 as green
Cerebellar hypoplasia WDR81 Alice Gardham added WDR81 to panel
Cerebellar hypoplasia WDR81 Alice Gardham reviewed WDR81
Cerebellar hypoplasia GMPPB Alice Gardham marked GMPPB as ready
Cerebellar hypoplasia GMPPB Alice Gardham classified GMPPB as green
Cerebellar hypoplasia GMPPB Alice Gardham reviewed GMPPB
Cerebellar hypoplasia ISPD Alice Gardham marked ISPD as ready
Cerebellar hypoplasia ISPD Alice Gardham reviewed ISPD
Cerebellar hypoplasia B3GALNT2 Alice Gardham marked B3GALNT2 as ready
Cerebellar hypoplasia B3GALNT2 Alice Gardham classified B3GALNT2 as green
Cerebellar hypoplasia B3GALNT2 Alice Gardham reviewed B3GALNT2
Cerebellar hypoplasia POMGNT2 Alice Gardham marked POMGNT2 as ready
Cerebellar hypoplasia POMGNT2 Alice Gardham classified POMGNT2 as green
Cerebellar hypoplasia POMGNT2 Alice Gardham reviewed POMGNT2
Cerebellar hypoplasia POMGNT1 Alice Gardham marked POMGNT1 as ready
Cerebellar hypoplasia POMGNT1 Alice Gardham reviewed POMGNT1
Cerebellar hypoplasia LARGE Alice Gardham marked LARGE as ready
Cerebellar hypoplasia LARGE Alice Gardham reviewed LARGE
Cerebellar hypoplasia DAG1 Alice Gardham marked DAG1 as ready
Cerebellar hypoplasia DAG1 Alice Gardham classified DAG1 as amber
Cerebellar hypoplasia DAG1 Alice Gardham reviewed DAG1
Cerebellar hypoplasia POMT2 Alice Gardham marked POMT2 as ready
Cerebellar hypoplasia POMT2 Alice Gardham reviewed POMT2
Cerebellar hypoplasia TMEM5 Alice Gardham classified TMEM5 as green
Cerebellar hypoplasia TMEM5 Alice Gardham marked TMEM5 as ready
Cerebellar hypoplasia TMEM5 Alice Gardham reviewed TMEM5
Cerebellar hypoplasia FKTN Alice Gardham marked FKTN as ready
Cerebellar hypoplasia FKTN Alice Gardham reviewed FKTN
Cerebellar hypoplasia FKRP Alice Gardham marked FKRP as ready
Cerebellar hypoplasia FKRP Alice Gardham reviewed FKRP
Cerebellar hypoplasia SNX14 Alice Gardham marked SNX14 as ready
Cerebellar hypoplasia SNX14 Alice Gardham classified SNX14 as green
Cerebellar hypoplasia SNX14 Alice Gardham added SNX14 to panel
Cerebellar hypoplasia SNX14 Alice Gardham reviewed SNX14
Cerebellar hypoplasia PHGDH Alice Gardham added PHGDH to panel
Cerebellar hypoplasia PHGDH Alice Gardham reviewed PHGDH
Cerebellar hypoplasia POMK Alice Gardham added POMK to panel
Cerebellar hypoplasia POMK Alice Gardham reviewed POMK
Cerebellar hypoplasia POMT1 Alice Gardham marked POMT1 as ready
Cerebellar hypoplasia POMT1 Alice Gardham added POMT1 to panel
Cerebellar hypoplasia POMT1 Alice Gardham reviewed POMT1
Cerebellar hypoplasia B4GAT1 Alice Gardham added B4GAT1 to panel
Cerebellar hypoplasia B4GAT1 Alice Gardham reviewed B4GAT1
Cerebellar hypoplasia FRMD4A Alice Gardham added FRMD4A to panel
Cerebellar hypoplasia FRMD4A Alice Gardham reviewed FRMD4A
Cerebellar hypoplasia ADGRG1 Alice Gardham marked ADGRG1 as ready
Cerebellar hypoplasia ADGRG1 Alice Gardham added ADGRG1 to panel
Cerebellar hypoplasia ADGRG1 Alice Gardham reviewed ADGRG1
Cerebellar hypoplasia PI4KA Alice Gardham added PI4KA to panel
Cerebellar hypoplasia PI4KA Alice Gardham reviewed PI4KA
Cerebellar hypoplasia CDK5 Alice Gardham added CDK5 to panel
Cerebellar hypoplasia CDK5 Alice Gardham reviewed CDK5
Cerebellar hypoplasia TERT Alice Gardham added TERT to panel
Cerebellar hypoplasia TERT Alice Gardham reviewed TERT
Cerebellar hypoplasia TINF2 Alice Gardham marked TINF2 as ready
Cerebellar hypoplasia TINF2 Alice Gardham added TINF2 to panel
Cerebellar hypoplasia TINF2 Alice Gardham reviewed TINF2
Cerebellar hypoplasia CWF19L1 Alice Gardham classified CWF19L1 as green
Cerebellar hypoplasia CWF19L1 Alice Gardham classified CWF19L1 as amber
Cerebellar hypoplasia CWF19L1 Alice Gardham classified CWF19L1 as green
Cerebellar hypoplasia CWF19L1 Alice Gardham added CWF19L1 to panel
Cerebellar hypoplasia CWF19L1 Alice Gardham reviewed CWF19L1
Cerebellar hypoplasia PTF1A Alice Gardham marked PTF1A as ready
Cerebellar hypoplasia PTF1A Alice Gardham added PTF1A to panel
Cerebellar hypoplasia PTF1A Alice Gardham reviewed PTF1A
Cerebellar hypoplasia BRF1 Alice Gardham added BRF1 to panel
Cerebellar hypoplasia BRF1 Alice Gardham reviewed BRF1
Cerebellar hypoplasia TUBB3 Alice Gardham marked TUBB3 as ready
Cerebellar hypoplasia TUBB3 Alice Gardham added TUBB3 to panel
Cerebellar hypoplasia TUBB3 Alice Gardham reviewed TUBB3
Cerebellar hypoplasia TUBB2B Alice Gardham marked TUBB2B as ready
Cerebellar hypoplasia TUBB2B Alice Gardham added TUBB2B to panel
Cerebellar hypoplasia TUBB2B Alice Gardham reviewed TUBB2B
Cerebellar hypoplasia TUBB Alice Gardham added TUBB to panel
Cerebellar hypoplasia TUBB Alice Gardham reviewed TUBB
Cerebellar hypoplasia TUBA8 Alice Gardham marked TUBA8 as ready
Cerebellar hypoplasia TUBA8 Alice Gardham classified TUBA8 as green
Cerebellar hypoplasia TUBA8 Alice Gardham added TUBA8 to panel
Cerebellar hypoplasia TUBA8 Alice Gardham reviewed TUBA8
Cerebellar hypoplasia TUBA1A Alice Gardham marked TUBA1A as ready
Cerebellar hypoplasia TUBA1A Alice Gardham added TUBA1A to panel
Cerebellar hypoplasia TUBA1A Alice Gardham reviewed TUBA1A
Cerebellar hypoplasia DKC1 Alice Gardham marked DKC1 as ready
Cerebellar hypoplasia DKC1 Alice Gardham added DKC1 to panel
Cerebellar hypoplasia DKC1 Alice Gardham reviewed DKC1
Cerebellar hypoplasia TSEN34 Alice Gardham classified TSEN34 as green
Cerebellar hypoplasia TSEN34 Alice Gardham marked TSEN34 as ready
Cerebellar hypoplasia RELN Alice Gardham marked RELN as ready
Cerebellar hypoplasia RELN Alice Gardham added RELN to panel
Cerebellar hypoplasia RELN Alice Gardham reviewed RELN
Cerebellar hypoplasia CHMP1A Alice Gardham marked CHMP1A as ready
Cerebellar hypoplasia CHMP1A Alice Gardham classified CHMP1A as green
Cerebellar hypoplasia TSEN15 Alice Gardham added TSEN15 to panel
Cerebellar hypoplasia TSEN15 Alice Gardham reviewed TSEN15
Cerebellar hypoplasia VPS53 Alice Gardham classified VPS53 as amber
Cerebellar hypoplasia VPS53 Alice Gardham reviewed VPS53
Cerebellar hypoplasia SPTBN2 Alice Gardham marked SPTBN2 as ready
Cerebellar hypoplasia SPTBN2 Alice Gardham commented on SPTBN2
Cerebellar hypoplasia KCNC3 Alice Gardham marked KCNC3 as ready
Cerebellar hypoplasia KCNC3 Alice Gardham commented on KCNC3
Cerebellar hypoplasia ITPR1 Alice Gardham marked ITPR1 as ready
Cerebellar hypoplasia ITPR1 Alice Gardham commented on ITPR1
Cerebellar hypoplasia EXOSC8 Alice Gardham reviewed EXOSC8
Cerebellar hypoplasia CLP1 Alice Gardham classified CLP1 as green
Cerebellar hypoplasia CLP1 Alice Gardham reviewed CLP1
Cerebellar hypoplasia OPHN1 Alice Gardham classified OPHN1 as green
Cerebellar hypoplasia VLDLR Alice Gardham classified VLDLR as green
Cerebellar hypoplasia VLDLR Alice Gardham marked VLDLR as ready
Cerebellar hypoplasia VLDLR Alice Gardham reviewed VLDLR
Cerebellar hypoplasia OPHN1 Alice Gardham marked OPHN1 as ready
Cerebellar hypoplasia OPHN1 Alice Gardham commented on OPHN1
Cerebellar hypoplasia CHMP1A Alice Gardham reviewed CHMP1A
Cerebellar hypoplasia CASK Alice Gardham marked CASK as ready
Cerebellar hypoplasia CASK Alice Gardham commented on CASK
Cerebellar hypoplasia CASK Alice Gardham classified CASK as green
Cerebellar hypoplasia AMPD2 Alice Gardham classified AMPD2 as green
Cerebellar hypoplasia AMPD2 Alice Gardham classified AMPD2 as red
Cerebellar hypoplasia AMPD2 Alice Gardham marked AMPD2 as ready
Cerebellar hypoplasia AMPD2 Alice Gardham reviewed AMPD2
Cerebellar hypoplasia VRK1 Alice Gardham reviewed VRK1
Cerebellar hypoplasia TSEN54 Alice Gardham marked TSEN54 as ready
Cerebellar hypoplasia TSEN34 Alice Gardham reviewed TSEN34
Cerebellar hypoplasia TSEN34 Alice Gardham classified TSEN34 as amber
Cerebellar hypoplasia TSEN2 Alice Gardham marked TSEN2 as ready
Cerebellar hypoplasia TSEN2 Alice Gardham commented on TSEN2
Cerebellar hypoplasia SEPSECS Alice Gardham marked SEPSECS as ready
Cerebellar hypoplasia SEPSECS Alice Gardham commented on SEPSECS
Cerebellar hypoplasia RARS2 Alice Gardham marked RARS2 as ready
Cerebellar hypoplasia RARS2 Alice Gardham reviewed RARS2
Cerebellar hypoplasia EXOSC3 Alice Gardham marked EXOSC3 as ready