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Malformations of cortical development v1.171 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Malformations of cortical development v1.171 KIF1BP Louise Daugherty commented on gene: KIF1BP
Malformations of cortical development v1.171 EMX2 Louise Daugherty Classified gene: EMX2 as Green List (high evidence)
Malformations of cortical development v1.171 EMX2 Louise Daugherty Gene: emx2 has been classified as Green List (High Evidence).
Malformations of cortical development v1.170 EMX2 Louise Daugherty changed review comment from: From review Rebecca Foulger (Genomics England curator) [email protected]
Review from Genetic epilepsy syndromes panel:
Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.
Created: 29 Nov 2018, 11:05 a.m.

Faiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).
Created: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.

Panel Version: 1.173; to: From review Rebecca Foulger (Genomics England curator) Review from Genetic epilepsy syndromes panel:
Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.
Created: 29 Nov 2018, 11:05 a.m.

Faiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).
Created: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.

Panel Version: 1.173
Malformations of cortical development v1.170 EMX2 Louise Daugherty changed review comment from: From review
Rebecca Foulger (Genomics England curator)
[email protected]
I don't know

Review from Genetic epilepsy syndromes panel:

Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.
Created: 29 Nov 2018, 11:05 a.m.

Faiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).
Created: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.

Panel Version: 1.173; to: From review Rebecca Foulger (Genomics England curator) [email protected]
Review from Genetic epilepsy syndromes panel:
Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.
Created: 29 Nov 2018, 11:05 a.m.

Faiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).
Created: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.

Panel Version: 1.173
Malformations of cortical development v1.170 EMX2 Louise Daugherty commented on gene: EMX2: From review
Rebecca Foulger (Genomics England curator)
[email protected]
I don't know

Review from Genetic epilepsy syndromes panel:

Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.
Created: 29 Nov 2018, 11:05 a.m.

Faiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).
Created: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.

Panel Version: 1.173
Malformations of cortical development v1.170 EMX2 Louise Daugherty gene: EMX2 was added
gene: EMX2 was added to Malformations of cortical development. Sources: Other
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EMX2 were set to 8528262; 9359037
Phenotypes for gene: EMX2 were set to Schizencephaly, 269160
Review for gene: EMX2 was set to GREEN
Added comment: Due to a webex to discuss R59 (https://panelapp.genomicsengland.co.uk/panels/489/) on Aug 8th 2019 (RF, EM, RS with WWMGLH), some discussion points overlapped with additional panels and it was agreed that EMX2 should be added to the : Malformations of cortical development panel : https://panelapp.genomicsengland.co.uk/panels/96/ which a component of the GMS Super panels: https://panelapp.genomicsengland.co.uk/panels/96/ and Cerebral malformations (https://panelapp.genomicsengland.co.uk/panels/491/).
Phenotype is: Schizencephaly
Sources: Other
Malformations of cortical development v1.167 MACF1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels.
Malformations of cortical development v1.167 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
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Classified gene: MACF1 as Green List (high evidence)
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Added comment: Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716.
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Gene: macf1 has been classified as Green List (High Evidence).
Malformations of cortical development v1.165 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to Malformations of cortical development. 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
Review for gene: MACF1 was set to GREEN
Added comment: Added MACF1 to 'Malformations of cortical development' 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
Malformations of cortical development v1.164 ISPD Louise Daugherty commented on gene: ISPD
Malformations of cortical development v1.164 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Malformations of cortical development v1.164 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Malformations of cortical development v1.163 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Malformations of cortical development v1.161 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Malformations of cortical development v1.160 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Malformations of cortical development v1.160 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Malformations of cortical development v1.160 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Demoted from Green to Amber based on re-review of evidence. Demotion was 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.
Malformations of cortical development v1.160 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v1.159 TUBA8 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM and DD-Gene2Phenotype.
Malformations of cortical development v1.159 TUBA8 Rebecca Foulger Mode of inheritance for gene: TUBA8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development v1.158 SMO Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Malformations of cortical development v1.158 SMO Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Malformations of cortical development v1.157 MTOR Rebecca Foulger Classified gene: MTOR as Green List (high evidence)
Malformations of cortical development v1.157 MTOR Rebecca Foulger Added comment: Comment on list classification: Promoted from Amber to Green due to ID panel review there is enough evidence to support MTOR and Focal cortical dysplasia, type II.
Malformations of cortical development v1.157 MTOR Rebecca Foulger Gene: mtor has been classified as Green List (High Evidence).
Malformations of cortical development v1.156 TUBB Rebecca Foulger Classified gene: TUBB as Green List (high evidence)
Malformations of cortical development v1.156 TUBB Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following reassessment of evidence as suggested by Helen Brittain, TUBB is a confirmed Gene2Phenotype gene for cortical dysplasia disorder (MIM:615771). Plus 3 unrelated cases from the literature (PMID:23246003).
Malformations of cortical development v1.156 TUBB Rebecca Foulger Gene: tubb has been classified as Green List (High Evidence).
Malformations of cortical development v1.155 TUBB Rebecca Foulger commented on gene: TUBB: In 3 unrelated children of different ethnicities with complex cortical dysplasia with other brain malformations-6 (MIM:615771) and microcephaly, Breuss et al. (2012, PMID:23246003) identified 3 different de novo heterozygous missense variants in the TUBB gene.
Malformations of cortical development v1.155 TUBB Rebecca Foulger Publications for gene: TUBB were set to 27010057, 23246003; 30016746
Malformations of cortical development v1.154 TUBB Rebecca Foulger Added comment: Comment on publications: TUBB is called TUBB5 in some literature (e.g. PMID:23246003).
Malformations of cortical development v1.154 TUBB Rebecca Foulger Publications for gene: TUBB were set to 27010057, 23246003
Malformations of cortical development v1.153 TUBB Rebecca Foulger Phenotypes for gene: TUBB were changed from Cortical dysplasia, complex, with other brain malformations 6 to Cortical dysplasia, complex, with other brain malformations 6, 615771
Malformations of cortical development v1.152 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Malformations of cortical development. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
Malformations of cortical development OSGEP Helen Brittain marked gene: OSGEP as ready
Malformations of cortical development OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Malformations of cortical development OSGEP Helen Brittain Added gene to panel
Malformations of cortical development PEX11A Louise Daugherty edited their review of PEX11A
Malformations of cortical development PEX11A Louise Daugherty Added gene to panel
Malformations of cortical development PEX7 Helen Brittain reviewed PEX7
Malformations of cortical development PEX6 Helen Brittain reviewed PEX6
Malformations of cortical development PEX5 Helen Brittain reviewed PEX5
Malformations of cortical development PEX3 Helen Brittain reviewed PEX3
Malformations of cortical development PEX26 Helen Brittain reviewed PEX26
Malformations of cortical development PEX2 Helen Brittain reviewed PEX2
Malformations of cortical development PEX19 Helen Brittain reviewed PEX19
Malformations of cortical development PEX16 Helen Brittain reviewed PEX16
Malformations of cortical development PEX14 Helen Brittain reviewed PEX14
Malformations of cortical development PEX13 Helen Brittain reviewed PEX13
Malformations of cortical development PEX12 Helen Brittain reviewed PEX12
Malformations of cortical development PEX11B Helen Brittain reviewed PEX11B
Malformations of cortical development PEX10 Helen Brittain reviewed PEX10
Malformations of cortical development PEX1 Helen Brittain reviewed PEX1
Malformations of cortical development PEX7 Louise Daugherty Added gene to panel
Malformations of cortical development PEX6 Louise Daugherty Added gene to panel
Malformations of cortical development PEX5 Louise Daugherty Added gene to panel
Malformations of cortical development PEX3 Louise Daugherty Added gene to panel
Malformations of cortical development PEX26 Louise Daugherty Added gene to panel
Malformations of cortical development PEX2 Louise Daugherty Added gene to panel
Malformations of cortical development PEX19 Louise Daugherty Added gene to panel
Malformations of cortical development PEX16 Louise Daugherty Added gene to panel
Malformations of cortical development PEX14 Louise Daugherty Added gene to panel
Malformations of cortical development PEX13 Louise Daugherty Added gene to panel
Malformations of cortical development PEX12 Louise Daugherty Added gene to panel
Malformations of cortical development PEX11B Louise Daugherty Added gene to panel
Malformations of cortical development PEX10 Louise Daugherty Added gene to panel
Malformations of cortical development PEX1 Louise Daugherty Added gene to panel
Malformations of cortical development TMEM5 Louise Daugherty commented on TMEM5
Malformations of cortical development EOMES Ellen McDonagh commented on EOMES
Malformations of cortical development EOMES Ellen McDonagh Added gene to panel
Malformations of cortical development CDK13 Ellen McDonagh classified CDK13 as Green List (high evidence)
Malformations of cortical development TSC2 Ellen McDonagh classified TSC2 as red
Malformations of cortical development TSC2 Ellen McDonagh added TSC2 to panel
Malformations of cortical development TSC2 Ellen McDonagh reviewed TSC2
Malformations of cortical development TSC1 Ellen McDonagh classified TSC1 as amber
Malformations of cortical development TSC1 Ellen McDonagh added TSC1 to panel
Malformations of cortical development TSC1 Ellen McDonagh reviewed TSC1
Malformations of cortical development MTOR Ellen McDonagh classified MTOR as amber
Malformations of cortical development MTOR Ellen McDonagh added MTOR to panel
Malformations of cortical development MTOR Ellen McDonagh reviewed MTOR
Malformations of cortical development SMO Louise Daugherty classified SMO as green
Malformations of cortical development SMO Louise Daugherty commented on SMO
Malformations of cortical development SMO Louise Daugherty commented on SMO
Malformations of cortical development SMO Louise Daugherty added SMO to panel
Malformations of cortical development SMO Louise Daugherty reviewed SMO
Malformations of cortical development AKT3 Ellen McDonagh commented on AKT3
Malformations of cortical development FLNA Ellen McDonagh commented on FLNA
Malformations of cortical development CSNK2A1 Richard Scott marked CSNK2A1 as ready
Malformations of cortical development CSNK2A1 Richard Scott classified CSNK2A1 as green
Malformations of cortical development CSNK2A1 Richard Scott added CSNK2A1 to panel
Malformations of cortical development CSNK2A1 Richard Scott reviewed CSNK2A1
Malformations of cortical development Ellen McDonagh approved panel
Malformations of cortical development TUBB3 Alice Gardham classified TUBB3 as green
Malformations of cortical development TUBB3 Alice Gardham commented on TUBB3
Malformations of cortical development TUBB3 Alice Gardham classified TUBB3 as green
Malformations of cortical development B3GALNT2 Alice Gardham marked B3GALNT2 as ready
Malformations of cortical development B3GALNT2 Alice Gardham classified B3GALNT2 as green
Malformations of cortical development B3GALNT2 Alice Gardham added B3GALNT2 to panel
Malformations of cortical development B3GALNT2 Alice Gardham reviewed B3GALNT2
Malformations of cortical development GMPPB Alice Gardham marked GMPPB as ready
Malformations of cortical development GMPPB Alice Gardham added GMPPB to panel
Malformations of cortical development GMPPB Alice Gardham reviewed GMPPB
Malformations of cortical development TMEM5 Alice Gardham marked TMEM5 as ready
Malformations of cortical development TMEM5 Alice Gardham added TMEM5 to panel
Malformations of cortical development TMEM5 Alice Gardham reviewed TMEM5
Malformations of cortical development B4GAT1 Alice Gardham marked B4GAT1 as ready
Malformations of cortical development B4GAT1 Alice Gardham added B4GAT1 to panel
Malformations of cortical development B4GAT1 Alice Gardham reviewed B4GAT1
Malformations of cortical development DAG1 Alice Gardham marked DAG1 as ready
Malformations of cortical development DAG1 Alice Gardham added DAG1 to panel
Malformations of cortical development DAG1 Alice Gardham reviewed DAG1
Malformations of cortical development POMGNT2 Alice Gardham marked POMGNT2 as ready
Malformations of cortical development POMGNT2 Alice Gardham added POMGNT2 to panel
Malformations of cortical development POMGNT2 Alice Gardham reviewed POMGNT2
Malformations of cortical development POMK Alice Gardham marked POMK as ready
Malformations of cortical development POMK Alice Gardham added POMK to panel
Malformations of cortical development POMK Alice Gardham reviewed POMK
Malformations of cortical development ASPM Alice Gardham marked ASPM as ready
Malformations of cortical development ASPM Alice Gardham added ASPM to panel
Malformations of cortical development ASPM Alice Gardham reviewed ASPM
Malformations of cortical development KIAA1279 Alice Gardham marked KIAA1279 as ready
Malformations of cortical development KIAA1279 Alice Gardham added KIAA1279 to panel
Malformations of cortical development KIAA1279 Alice Gardham reviewed KIAA1279
Malformations of cortical development GPSM2 Alice Gardham marked GPSM2 as ready
Malformations of cortical development GPSM2 Alice Gardham classified GPSM2 as green
Malformations of cortical development GPSM2 Alice Gardham added GPSM2 to panel
Malformations of cortical development GPSM2 Alice Gardham reviewed GPSM2
Malformations of cortical development TUBA1A Alice Gardham marked TUBA1A as ready
Malformations of cortical development PAFAH1B1 Alice Gardham marked PAFAH1B1 as ready
Malformations of cortical development NDE1 Alice Gardham marked NDE1 as ready
Malformations of cortical development KATNB1 Alice Gardham marked KATNB1 as ready
Malformations of cortical development FLNA Alice Gardham marked FLNA as ready
Malformations of cortical development DCX Alice Gardham marked DCX as ready
Malformations of cortical development ARX Alice Gardham marked ARX as ready
Malformations of cortical development ADGRG1 Alice Gardham marked ADGRG1 as ready
Malformations of cortical development RTTN Alice Gardham marked RTTN as ready
Malformations of cortical development RTTN Alice Gardham added RTTN to panel
Malformations of cortical development RTTN Alice Gardham reviewed RTTN
Malformations of cortical development OCLN Alice Gardham marked OCLN as ready
Malformations of cortical development OCLN Alice Gardham classified OCLN as green
Malformations of cortical development OCLN Alice Gardham added OCLN to panel
Malformations of cortical development OCLN Alice Gardham reviewed OCLN
Malformations of cortical development ISPD Alice Gardham marked ISPD as ready
Malformations of cortical development ISPD Alice Gardham added ISPD to panel
Malformations of cortical development ISPD Alice Gardham reviewed ISPD
Malformations of cortical development FKTN Alice Gardham marked FKTN as ready
Malformations of cortical development FKTN Alice Gardham added FKTN to panel
Malformations of cortical development FKTN Alice Gardham reviewed FKTN
Malformations of cortical development ERMARD Alice Gardham marked ERMARD as ready
Malformations of cortical development ERMARD Alice Gardham added ERMARD to panel
Malformations of cortical development ERMARD Alice Gardham reviewed ERMARD
Malformations of cortical development CCND2 Alice Gardham marked CCND2 as ready
Malformations of cortical development CCND2 Alice Gardham classified CCND2 as green
Malformations of cortical development CCND2 Alice Gardham added CCND2 to panel
Malformations of cortical development CCND2 Alice Gardham reviewed CCND2
Malformations of cortical development TUBG1 Alice Gardham marked TUBG1 as ready
Malformations of cortical development TUBG1 Alice Gardham classified TUBG1 as green
Malformations of cortical development TUBG1 Alice Gardham reviewed TUBG1
Malformations of cortical development TUBB Alice Gardham marked TUBB as ready
Malformations of cortical development TUBB Alice Gardham classified TUBB as amber
Malformations of cortical development TUBB2A Alice Gardham marked TUBB2A as ready
Malformations of cortical development TUBB2A Alice Gardham classified TUBB2A as green
Malformations of cortical development TUBB2A Alice Gardham reviewed TUBB2A
Malformations of cortical development RELN Alice Gardham marked RELN as ready
Malformations of cortical development RELN Alice Gardham classified RELN as green
Malformations of cortical development LAMC3 Alice Gardham marked LAMC3 as ready
Malformations of cortical development LAMC3 Alice Gardham commented on LAMC3
Malformations of cortical development KIF5C Alice Gardham marked KIF5C as ready
Malformations of cortical development KIF5C Alice Gardham commented on KIF5C
Malformations of cortical development KIF5C Alice Gardham classified KIF5C as green
Malformations of cortical development KIF2A Alice Gardham marked KIF2A as ready
Malformations of cortical development KIF2A Alice Gardham commented on KIF2A
Malformations of cortical development KIF2A Alice Gardham classified KIF2A as green
Malformations of cortical development TUBA8 Alice Gardham marked TUBA8 as ready
Malformations of cortical development TUBA8 Alice Gardham commented on TUBA8
Malformations of cortical development TUBB2B Alice Gardham marked TUBB2B as ready
Malformations of cortical development TUBB2B Alice Gardham reviewed TUBB2B
Malformations of cortical development TUBB3 Alice Gardham marked TUBB3 as ready
Malformations of cortical development TUBB Alice Gardham reviewed TUBB
Malformations of cortical development PIK3R2 Alice Gardham marked PIK3R2 as ready
Malformations of cortical development PIK3R2 Alice Gardham commented on PIK3R2
Malformations of cortical development PIK3R2 Alice Gardham classified PIK3R2 as green
Malformations of cortical development PIK3CA Alice Gardham marked PIK3CA as ready
Malformations of cortical development PIK3CA Alice Gardham commented on PIK3CA
Malformations of cortical development PIK3CA Alice Gardham classified PIK3CA as green
Malformations of cortical development WDR62 Alice Gardham marked WDR62 as ready
Malformations of cortical development WDR62 Alice Gardham classified WDR62 as green
Malformations of cortical development POMT2 Alice Gardham marked POMT2 as ready
Malformations of cortical development POMT2 Alice Gardham commented on POMT2
Malformations of cortical development POMT2 Alice Gardham classified POMT2 as green
Malformations of cortical development POMT1 Alice Gardham marked POMT1 as ready
Malformations of cortical development POMT1 Alice Gardham commented on POMT1
Malformations of cortical development POMT1 Alice Gardham classified POMT1 as green
Malformations of cortical development POMGNT1 Alice Gardham marked POMGNT1 as ready
Malformations of cortical development POMGNT1 Alice Gardham commented on POMGNT1
Malformations of cortical development POMGNT1 Alice Gardham classified POMGNT1 as green
Malformations of cortical development NEDD4L Alice Gardham marked NEDD4L as ready
Malformations of cortical development NEDD4L Alice Gardham commented on NEDD4L
Malformations of cortical development NEDD4L Alice Gardham classified NEDD4L as green
Malformations of cortical development LARGE Alice Gardham marked LARGE as ready
Malformations of cortical development LARGE Alice Gardham commented on LARGE
Malformations of cortical development LARGE Alice Gardham classified LARGE as green
Malformations of cortical development LAMB1 Alice Gardham marked LAMB1 as ready
Malformations of cortical development LAMB1 Alice Gardham classified LAMB1 as green
Malformations of cortical development FKRP Alice Gardham marked FKRP as ready
Malformations of cortical development FKRP Alice Gardham commented on FKRP
Malformations of cortical development FKRP Alice Gardham classified FKRP as green
Malformations of cortical development DYNC1H1 Alice Gardham marked DYNC1H1 as ready
Malformations of cortical development DYNC1H1 Alice Gardham commented on DYNC1H1
Malformations of cortical development DYNC1H1 Alice Gardham classified DYNC1H1 as green
Malformations of cortical development ARFGEF2 Alice Gardham marked ARFGEF2 as ready
Malformations of cortical development ARFGEF2 Alice Gardham classified ARFGEF2 as green
Malformations of cortical development AKT3 Alice Gardham marked AKT3 as ready
Malformations of cortical development AKT3 Alice Gardham commented on AKT3
Malformations of cortical development AKT3 Alice Gardham classified AKT3 as green
Malformations of cortical development ACTG1 Alice Gardham marked ACTG1 as ready
Malformations of cortical development ACTG1 Alice Gardham commented on ACTG1
Malformations of cortical development ACTG1 Alice Gardham classified ACTG1 as green
Malformations of cortical development ACTB Alice Gardham classified ACTB as green
Malformations of cortical development ACTB Alice Gardham commented on ACTB
Malformations of cortical development ACTB Alice Gardham marked ACTB as ready
Malformations of cortical development Ellen McDonagh rejected panel
Malformations of cortical development LARGE Louise Daugherty commented on LARGE
Malformations of cortical development TUBA8 Usha Kini reviewed TUBA8
Malformations of cortical development RELN Usha Kini reviewed RELN
Malformations of cortical development RELN Usha Kini reviewed RELN
Malformations of cortical development LAMB1 Usha Kini added LAMB1 to panel
Malformations of cortical development LAMB1 Usha Kini reviewed LAMB1
Malformations of cortical development LAMC3 Usha Kini reviewed LAMC3
Malformations of cortical development NEDD4L Usha Kini added NEDD4L to panel
Malformations of cortical development NEDD4L Usha Kini reviewed NEDD4L
Malformations of cortical development LARGE Usha Kini added LARGE to panel
Malformations of cortical development LARGE Usha Kini reviewed LARGE
Malformations of cortical development FKRP Usha Kini added FKRP to panel
Malformations of cortical development FKRP Usha Kini reviewed FKRP
Malformations of cortical development POMGNT1 Usha Kini added POMGNT1 to panel
Malformations of cortical development POMGNT1 Usha Kini reviewed POMGNT1
Malformations of cortical development POMT2 Usha Kini added POMT2 to panel
Malformations of cortical development POMT2 Usha Kini reviewed POMT2
Malformations of cortical development POMT1 Usha Kini added POMT1 to panel
Malformations of cortical development POMT1 Usha Kini reviewed POMT1
Malformations of cortical development KIF5C Usha Kini reviewed KIF5C
Malformations of cortical development KIF2A Usha Kini reviewed KIF2A
Malformations of cortical development WDR62 Usha Kini added WDR62 to panel
Malformations of cortical development WDR62 Usha Kini reviewed WDR62
Malformations of cortical development PIK3R2 Usha Kini added PIK3R2 to panel
Malformations of cortical development PIK3R2 Usha Kini reviewed PIK3R2
Malformations of cortical development AKT3 Usha Kini added AKT3 to panel
Malformations of cortical development AKT3 Usha Kini reviewed AKT3
Malformations of cortical development PIK3CA Usha Kini added PIK3CA to panel
Malformations of cortical development PIK3CA Usha Kini reviewed PIK3CA
Malformations of cortical development ARFGEF2 Usha Kini added ARFGEF2 to panel
Malformations of cortical development ARFGEF2 Usha Kini reviewed ARFGEF2
Malformations of cortical development ACTG1 Usha Kini added ACTG1 to panel
Malformations of cortical development ACTG1 Usha Kini reviewed ACTG1
Malformations of cortical development ACTB Usha Kini added ACTB to panel
Malformations of cortical development ACTB Usha Kini reviewed ACTB
Malformations of cortical development DYNC1H1 Usha Kini added DYNC1H1 to panel
Malformations of cortical development DYNC1H1 Usha Kini reviewed DYNC1H1
Malformations of cortical development Sarah Leigh promoted panel to version 1
Malformations of cortical development KATNB1 Sarah Leigh classified KATNB1 as green
Malformations of cortical development KATNB1 Sarah Leigh classified KATNB1 as green
Malformations of cortical development KATNB1 Sarah Leigh marked KATNB1 as ready
Malformations of cortical development KATNB1 Sarah Leigh commented on KATNB1
Malformations of cortical development RELN Sarah Leigh marked RELN as ready
Malformations of cortical development RELN Sarah Leigh classified RELN as red
Malformations of cortical development RELN Sarah Leigh commented on RELN
Malformations of cortical development TUBA1A Sarah Leigh marked TUBA1A as ready
Malformations of cortical development TUBA1A Sarah Leigh commented on TUBA1A
Malformations of cortical development TUBA1A Sarah Leigh classified TUBA1A as green
Malformations of cortical development FLNA Sarah Leigh classified FLNA as green
Malformations of cortical development NDE1 Sarah Leigh marked NDE1 as ready
Malformations of cortical development NDE1 Sarah Leigh commented on NDE1
Malformations of cortical development NDE1 Sarah Leigh classified NDE1 as green
Malformations of cortical development FLNA Sarah Leigh classified FLNA as green
Malformations of cortical development FLNA Sarah Leigh marked FLNA as ready
Malformations of cortical development FLNA Sarah Leigh commented on FLNA
Malformations of cortical development DCX Sarah Leigh marked DCX as ready
Malformations of cortical development DCX Sarah Leigh commented on DCX
Malformations of cortical development DCX Sarah Leigh classified DCX as green
Malformations of cortical development ARX Sarah Leigh marked ARX as ready
Malformations of cortical development ARX Sarah Leigh commented on ARX
Malformations of cortical development ARX Sarah Leigh classified ARX as green
Malformations of cortical development PAFAH1B1 Sarah Leigh marked PAFAH1B1 as ready
Malformations of cortical development PAFAH1B1 Sarah Leigh commented on PAFAH1B1
Malformations of cortical development ADGRG1 Sarah Leigh marked ADGRG1 as ready
Malformations of cortical development ADGRG1 Sarah Leigh commented on ADGRG1
Malformations of cortical development ADGRG1 Sarah Leigh classified ADGRG1 as green
Malformations of cortical development TUBA1A Ian Berry reviewed TUBA1A
Malformations of cortical development NDE1 Ian Berry reviewed NDE1
Malformations of cortical development FLNA Ian Berry reviewed FLNA
Malformations of cortical development DCX Ian Berry reviewed DCX
Malformations of cortical development ARX Ian Berry reviewed ARX
Malformations of cortical development ADGRG1 Ian Berry reviewed ADGRG1