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Severe microcephaly v1.50 PALB2 Helen Brittain Classified gene: PALB2 as Amber List (moderate evidence)
Severe microcephaly v1.50 PALB2 Helen Brittain Added comment: Comment on list classification: As per structural neurological working group webex on 11th July 2019
Severe microcephaly v1.50 PALB2 Helen Brittain Gene: palb2 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v1.49 PALB2 Helen Brittain reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.48 TRMT1 Rebecca Foulger gene: TRMT1 was added
gene: TRMT1 was added to Severe microcephaly. Sources: Literature
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to 30289604
Phenotypes for gene: TRMT1 were set to Non‐syndromal congenital microcephaly
Review for gene: TRMT1 was set to RED
Added comment: Added TRMT1 to the microcephaly panel based on PMID:30289604 (Blaesius et al., 2018) who report 4 patients from 2 unrelated consanguineous Pakistani families with homozygous variants in TRMT1 and intellectual disability. Non‐syndromal microcephaly was diagnosed at birth in three of the patients (V:2 from Family 1 (OFC -4.9 SD), and III.3 (OFC -4.1 SD) and III.4 (OFC -4 SD) from Family 2). The authors note that the clinical features are reminiscent of autosomal recessive primary microcephaly (MCPH). Rated as Red awaiting further cases.
Sources: Literature
Severe microcephaly v1.47 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Severe microcephaly v1.46 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Severe microcephaly v1.46 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Severe microcephaly v1.45 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Severe microcephaly v1.44 Louise Daugherty List of related panels changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly; GMS R88 to Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly
Severe microcephaly v1.42 COASY Louise Daugherty Publications for gene: COASY were set to 30089828
Severe microcephaly v1.41 COASY Louise Daugherty commented on gene: COASY: added watchlist tag
Severe microcephaly v1.41 COASY Louise Daugherty Tag watchlist tag was added to gene: COASY.
Severe microcephaly v1.41 COASY Louise Daugherty Classified gene: COASY as Amber List (moderate evidence)
Severe microcephaly v1.41 COASY Louise Daugherty Added comment: Comment on list classification: New gene. Rated Amber until more cases on gene and disease association are reported.
Severe microcephaly v1.41 COASY Louise Daugherty Gene: coasy has been classified as Amber List (Moderate Evidence).
Severe microcephaly v1.40 COASY Louise Daugherty gene: COASY was added
gene: COASY was added to Severe microcephaly. Sources: Literature
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 30089828
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
Severe microcephaly v1.39 Ellen McDonagh List of related panels changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum to Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly; GMS R88
Severe microcephaly v1.38 Ellen McDonagh Panel name changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum to Severe microcephaly
List of related panels changed from to Primary Microcephaly - Microcephalic Dwarfism Spectrum
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Severe microcephaly v1.37 ISCA-37425-Gain Louise Daugherty Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694
Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.
Severe microcephaly v1.37 ISCA-37390-Loss Louise Daugherty Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 11238681; 15635506
Phenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay
Severe microcephaly v1.37 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Severe microcephaly v1.37 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Severe microcephaly RMI1 Sarah Leigh classified RMI1 as Amber List (moderate evidence)
Severe microcephaly RMI1 Sarah Leigh Added gene to panel
Severe microcephaly TOP3A Sarah Leigh classified TOP3A as Green List (high evidence)
Severe microcephaly TOP3A Sarah Leigh Added gene to panel
Severe microcephaly WDR4 Louise Daugherty classified WDR4 as Amber List (moderate evidence)
Severe microcephaly WDR4 Ellen McDonagh edited their review of WDR4
Severe microcephaly MRE11 Louise Daugherty classified MRE11 as Amber List (moderate evidence)
Severe microcephaly MRE11 Louise Daugherty edited their review of MRE11
Severe microcephaly MRE11 Louise Daugherty Added gene to panel
Severe microcephaly IARS Louise Daugherty classified IARS as Green List (high evidence)
Severe microcephaly IARS Louise Daugherty edited their review of IARS
Severe microcephaly IARS Louise Daugherty Added gene to panel
Severe microcephaly EOMES Ellen McDonagh commented on EOMES
Severe microcephaly EOMES Ellen McDonagh Added gene to panel
Severe microcephaly FANCM Ellen McDonagh reviewed FANCM
Severe microcephaly RPL10 Sarah Leigh classified RPL10 as green
Severe microcephaly RPL10 Sarah Leigh commented on RPL10
Severe microcephaly RPL10 Sarah Leigh added RPL10 to panel
Severe microcephaly RPL10 Sarah Leigh reviewed RPL10
Severe microcephaly DONSON Sarah Leigh classified DONSON as green
Severe microcephaly DONSON Sarah Leigh reviewed DONSON
Severe microcephaly PLAA Rebecca Foulger classified PLAA as red
Severe microcephaly PLAA Rebecca Foulger commented on PLAA
Severe microcephaly PLAA Rebecca Foulger commented on PLAA
Severe microcephaly PLAA Rebecca Foulger added PLAA to panel
Severe microcephaly PLAA Rebecca Foulger reviewed PLAA
Severe microcephaly TAF13 Ellen McDonagh classified TAF13 as amber
Severe microcephaly TAF13 Ellen McDonagh added TAF13 to panel
Severe microcephaly TAF13 Ellen McDonagh reviewed TAF13
Severe microcephaly WDFY3 Rebecca Foulger classified WDFY3 as red
Severe microcephaly WDFY3 Rebecca Foulger added WDFY3 to panel
Severe microcephaly WDFY3 Rebecca Foulger reviewed WDFY3
Severe microcephaly DONSON Olivia Niblock added DONSON to panel
Severe microcephaly DONSON Olivia Niblock reviewed DONSON
Severe microcephaly PRUNE Ellen McDonagh reviewed PRUNE
Severe microcephaly RAD51C Rebecca Foulger edited their review of RAD51C
Severe microcephaly RAD51C Rebecca Foulger classified RAD51C as amber
Severe microcephaly RAD51C Rebecca Foulger commented on RAD51C
Severe microcephaly MSMO1 Sarah Leigh classified MSMO1 as green
Severe microcephaly MSMO1 Sarah Leigh commented on MSMO1
Severe microcephaly PRUNE Rebecca Foulger commented on PRUNE
Severe microcephaly PDHA1 emma baple edited their review of PDHA1
Severe microcephaly PDHA1 emma baple marked PDHA1 as ready
Severe microcephaly PDHA1 emma baple classified PDHA1 as green
Severe microcephaly PDHA1 emma baple added PDHA1 to panel
Severe microcephaly PDHA1 emma baple reviewed PDHA1
Severe microcephaly PRUNE emma baple marked PRUNE as ready
Severe microcephaly PRUNE emma baple classified PRUNE as green
Severe microcephaly PRUNE emma baple added PRUNE to panel
Severe microcephaly PRUNE emma baple reviewed PRUNE
Severe microcephaly Rebecca Foulger promoted panel to version 1
Severe microcephaly DIAPH1 Rebecca Foulger classified DIAPH1 as green
Severe microcephaly SMC1A Rebecca Foulger classified SMC1A as green
Severe microcephaly SMC1A Rebecca Foulger commented on SMC1A
Severe microcephaly SMC1A Rebecca Foulger edited their review of SMC1A
Severe microcephaly DPP6 Rebecca Foulger classified DPP6 as green
Severe microcephaly HDAC8 Rebecca Foulger classified HDAC8 as green
Severe microcephaly HDAC8 Rebecca Foulger commented on HDAC8
Severe microcephaly HDAC8 Rebecca Foulger commented on HDAC8
Severe microcephaly NIPBL Rebecca Foulger classified NIPBL as green
Severe microcephaly NIPBL Rebecca Foulger commented on NIPBL
Severe microcephaly SMC1A Rebecca Foulger commented on SMC1A
Severe microcephaly SMC3 Rebecca Foulger classified SMC3 as green
Severe microcephaly SMC3 Rebecca Foulger commented on SMC3
Severe microcephaly RAD21 Rebecca Foulger classified RAD21 as green
Severe microcephaly RAD21 Rebecca Foulger commented on RAD21
Severe microcephaly RAD21 Rebecca Foulger commented on RAD21
Severe microcephaly RAD21 Rebecca Foulger commented on RAD21
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6
Severe microcephaly POC1A Rebecca Foulger classified POC1A as green
Severe microcephaly DYRK1A Rebecca Foulger commented on DYRK1A
Severe microcephaly DYRK1A Rebecca Foulger classified DYRK1A as green
Severe microcephaly DYRK1A Rebecca Foulger commented on DYRK1A
Severe microcephaly DYRK1A Rebecca Foulger commented on DYRK1A
Severe microcephaly CTNNB1 Rebecca Foulger classified CTNNB1 as green
Severe microcephaly CTNNB1 Rebecca Foulger commented on CTNNB1
Severe microcephaly RBBP8 Rebecca Foulger classified RBBP8 as green
Severe microcephaly ZNF335 Rebecca Foulger classified ZNF335 as amber
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Severe microcephaly WDR4 Rebecca Foulger commented on WDR4
Severe microcephaly TRMT10A Rebecca Foulger classified TRMT10A as green
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Severe microcephaly RBBP8 Rebecca Foulger commented on RBBP8
Severe microcephaly RBBP8 Rebecca Foulger commented on RBBP8
Severe microcephaly RBBP8 Rebecca Foulger commented on RBBP8
Severe microcephaly RBBP8 Rebecca Foulger commented on RBBP8
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly PHC1 Rebecca Foulger commented on PHC1
Severe microcephaly PHC1 Rebecca Foulger commented on PHC1
Severe microcephaly NSMCE2 Rebecca Foulger commented on NSMCE2
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6
Severe microcephaly DDX11 Rebecca Foulger classified DDX11 as green
Severe microcephaly DDX11 Rebecca Foulger commented on DDX11
Severe microcephaly CDC6 Rebecca Foulger commented on CDC6
Severe microcephaly TUBGCP3 Rebecca Foulger commented on TUBGCP3
Severe microcephaly NSMCE2 Rebecca Foulger commented on NSMCE2
Severe microcephaly ERCC5 Rebecca Foulger classified ERCC5 as red
Severe microcephaly ERCC5 Rebecca Foulger commented on ERCC5
Severe microcephaly ERCC5 Rebecca Foulger commented on ERCC5
Severe microcephaly ERCC5 Rebecca Foulger added ERCC5 to panel
Severe microcephaly ERCC5 Rebecca Foulger reviewed ERCC5
Severe microcephaly ERCC4 Rebecca Foulger classified ERCC4 as green
Severe microcephaly ERCC4 Rebecca Foulger commented on ERCC4
Severe microcephaly ERCC4 Rebecca Foulger commented on ERCC4
Severe microcephaly ERCC4 Rebecca Foulger added ERCC4 to panel
Severe microcephaly ERCC4 Rebecca Foulger reviewed ERCC4
Severe microcephaly FANCM Rebecca Foulger classified FANCM as red
Severe microcephaly FANCM Rebecca Foulger commented on FANCM
Severe microcephaly WDR73 Rebecca Foulger classified WDR73 as green
Severe microcephaly CRIPT Rebecca Foulger classified CRIPT as amber
Severe microcephaly CRIPT Rebecca Foulger commented on CRIPT
Severe microcephaly KIAA1279 Rebecca Foulger classified KIAA1279 as green
Severe microcephaly KIAA1279 Rebecca Foulger commented on KIAA1279
Severe microcephaly LARP7 Rebecca Foulger classified LARP7 as green
Severe microcephaly LARP7 Rebecca Foulger edited their review of LARP7
Severe microcephaly LARP7 Rebecca Foulger commented on LARP7
Severe microcephaly ATRX Rebecca Foulger edited their review of ATRX
Severe microcephaly ATRX Rebecca Foulger classified ATRX as green
Severe microcephaly ATRX Rebecca Foulger commented on ATRX
Severe microcephaly CREBBP Rebecca Foulger marked CREBBP as ready
Severe microcephaly MYCN Rebecca Foulger marked MYCN as ready
Severe microcephaly MYCN Rebecca Foulger classified MYCN as green
Severe microcephaly MYCN Rebecca Foulger commented on MYCN
Severe microcephaly CREBBP Rebecca Foulger classified CREBBP as green
Severe microcephaly CREBBP Rebecca Foulger commented on CREBBP
Severe microcephaly MYCN emma baple reviewed MYCN
Severe microcephaly KIAA1279 emma baple reviewed KIAA1279
Severe microcephaly CREBBP emma baple reviewed CREBBP
Severe microcephaly ATRX emma baple reviewed ATRX
Severe microcephaly SLX4 emma baple reviewed SLX4
Severe microcephaly RAD51C emma baple reviewed RAD51C
Severe microcephaly PALB2 emma baple reviewed PALB2
Severe microcephaly FANCL emma baple reviewed FANCL
Severe microcephaly FANCI emma baple reviewed FANCI
Severe microcephaly FANCG emma baple reviewed FANCG
Severe microcephaly FANCF emma baple reviewed FANCF
Severe microcephaly FANCE emma baple reviewed FANCE
Severe microcephaly FANCD2 emma baple reviewed FANCD2
Severe microcephaly FANCC emma baple reviewed FANCC
Severe microcephaly FANCB emma baple reviewed FANCB
Severe microcephaly FANCA emma baple reviewed FANCA
Severe microcephaly ERCC8 emma baple reviewed ERCC8
Severe microcephaly ERCC6 emma baple reviewed ERCC6
Severe microcephaly BRIP1 emma baple reviewed BRIP1
Severe microcephaly BRCA2 emma baple reviewed BRCA2
Severe microcephaly KIAA1279 Rebecca Foulger commented on KIAA1279
Severe microcephaly PNKP Rebecca Foulger classified PNKP as green
Severe microcephaly PNKP Rebecca Foulger commented on PNKP
Severe microcephaly WDR73 Rebecca Foulger commented on WDR73
Severe microcephaly SLC9A6 Rebecca Foulger classified SLC9A6 as green
Severe microcephaly SLC9A6 Rebecca Foulger commented on SLC9A6
Severe microcephaly IER3IP1 Rebecca Foulger classified IER3IP1 as green
Severe microcephaly IER3IP1 Rebecca Foulger commented on IER3IP1
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Severe microcephaly PPP1R15B Rebecca Foulger commented on PPP1R15B
Severe microcephaly MSMO1 Rebecca Foulger classified MSMO1 as red
Severe microcephaly MSMO1 Rebecca Foulger commented on MSMO1
Severe microcephaly POC1A Rebecca Foulger classified POC1A as red
Severe microcephaly CRIPT Rebecca Foulger classified CRIPT as amber
Severe microcephaly CRIPT Rebecca Foulger added CRIPT to panel
Severe microcephaly CRIPT Rebecca Foulger reviewed CRIPT
Severe microcephaly QARS Rebecca Foulger classified QARS as amber
Severe microcephaly QARS Rebecca Foulger commented on QARS
Severe microcephaly DIAPH1 Rebecca Foulger classified DIAPH1 as amber
Severe microcephaly DIAPH1 Rebecca Foulger commented on DIAPH1
Severe microcephaly QARS Alice Gardham added QARS to panel
Severe microcephaly QARS Alice Gardham reviewed QARS
Severe microcephaly CKAP2L Alice Gardham marked CKAP2L as ready
Severe microcephaly CKAP2L Alice Gardham classified CKAP2L as green
Severe microcephaly CKAP2L Alice Gardham commented on CKAP2L
Severe microcephaly STAMBP Alice Gardham marked STAMBP as ready
Severe microcephaly STAMBP Alice Gardham classified STAMBP as green
Severe microcephaly STAMBP Alice Gardham added STAMBP to panel
Severe microcephaly STAMBP Alice Gardham reviewed STAMBP
Severe microcephaly NHEJ1 Alice Gardham marked NHEJ1 as ready
Severe microcephaly NHEJ1 Alice Gardham added NHEJ1 to panel
Severe microcephaly NHEJ1 Alice Gardham reviewed NHEJ1
Severe microcephaly DDX11 Alice Gardham added DDX11 to panel
Severe microcephaly DDX11 Alice Gardham reviewed DDX11
Severe microcephaly NBN Alice Gardham marked NBN as ready
Severe microcephaly NBN Alice Gardham added NBN to panel
Severe microcephaly NBN Alice Gardham reviewed NBN
Severe microcephaly ZEB2 Alice Gardham marked ZEB2 as ready
Severe microcephaly ZEB2 Alice Gardham added ZEB2 to panel
Severe microcephaly ZEB2 Alice Gardham reviewed ZEB2
Severe microcephaly DHCR7 Alice Gardham marked DHCR7 as ready
Severe microcephaly DHCR7 Alice Gardham added DHCR7 to panel
Severe microcephaly DHCR7 Alice Gardham reviewed DHCR7
Severe microcephaly CIT Alice Gardham marked CIT as ready
Severe microcephaly CIT Alice Gardham classified CIT as green
Severe microcephaly CIT Alice Gardham reviewed CIT
Severe microcephaly ANKLE2 Alice Gardham marked ANKLE2 as ready
Severe microcephaly ANKLE2 Alice Gardham reviewed ANKLE2
Severe microcephaly MFSD2A Alice Gardham marked MFSD2A as ready
Severe microcephaly MFSD2A Alice Gardham classified MFSD2A as green
Severe microcephaly MFSD2A Alice Gardham reviewed MFSD2A
Severe microcephaly ZNF335 Alice Gardham reviewed ZNF335
Severe microcephaly MCPH1 Alice Gardham marked MCPH1 as ready
Severe microcephaly MCPH1 Alice Gardham commented on MCPH1
Severe microcephaly CDK5RAP2 Alice Gardham marked CDK5RAP2 as ready
Severe microcephaly CDK5RAP2 Alice Gardham commented on CDK5RAP2
Severe microcephaly CASK Alice Gardham marked CASK as ready
Severe microcephaly ASPM Alice Gardham marked ASPM as ready
Severe microcephaly PCNT Alice Gardham marked PCNT as ready
Severe microcephaly PCNT Alice Gardham commented on PCNT
Severe microcephaly RTTN Alice Gardham marked RTTN as ready
Severe microcephaly RTTN Alice Gardham classified RTTN as green
Severe microcephaly RTTN Alice Gardham reviewed RTTN
Severe microcephaly CASC5 Alice Gardham marked CASC5 as ready
Severe microcephaly CASC5 Alice Gardham reviewed CASC5
Severe microcephaly STIL Alice Gardham marked STIL as ready
Severe microcephaly STIL Alice Gardham commented on STIL
Severe microcephaly WDR62 Alice Gardham marked WDR62 as ready
Severe microcephaly WDR62 Alice Gardham commented on WDR62
Severe microcephaly CEP152 Alice Gardham marked CEP152 as ready
Severe microcephaly CEP152 Alice Gardham commented on CEP152
Severe microcephaly CENPJ Alice Gardham marked CENPJ as ready
Severe microcephaly CENPJ Alice Gardham marked CENPJ as ready
Severe microcephaly CENPJ Alice Gardham commented on CENPJ
Severe microcephaly NDE1 Alice Gardham marked NDE1 as ready
Severe microcephaly NDE1 Alice Gardham classified NDE1 as green
Severe microcephaly NDE1 Alice Gardham reviewed NDE1
Severe microcephaly BLM Alice Gardham marked BLM as ready
Severe microcephaly BLM Alice Gardham reviewed BLM
Severe microcephaly LIG4 Alice Gardham marked LIG4 as ready
Severe microcephaly LIG4 Alice Gardham classified LIG4 as green
Severe microcephaly LIG4 Alice Gardham reviewed LIG4
Severe microcephaly XRCC4 Alice Gardham marked XRCC4 as ready
Severe microcephaly XRCC4 Alice Gardham classified XRCC4 as green
Severe microcephaly XRCC4 Alice Gardham reviewed XRCC4
Severe microcephaly CENPF Alice Gardham marked CENPF as ready
Severe microcephaly CENPF Alice Gardham classified CENPF as green
Severe microcephaly CENPF Alice Gardham reviewed CENPF
Severe microcephaly TRAIP Alice Gardham marked TRAIP as ready
Severe microcephaly TRAIP Alice Gardham classified TRAIP as green
Severe microcephaly TRAIP Alice Gardham reviewed TRAIP
Severe microcephaly TUBGCP4 Alice Gardham marked TUBGCP4 as ready
Severe microcephaly TUBGCP4 Alice Gardham marked TUBGCP4 as ready
Severe microcephaly TUBGCP4 Alice Gardham classified TUBGCP4 as green
Severe microcephaly TUBGCP4 Alice Gardham reviewed TUBGCP4
Severe microcephaly PLK4 Alice Gardham marked PLK4 as ready
Severe microcephaly PLK4 Alice Gardham classified PLK4 as green
Severe microcephaly PLK4 Alice Gardham reviewed PLK4
Severe microcephaly TUBGCP6 Alice Gardham marked TUBGCP6 as ready
Severe microcephaly TUBGCP6 Alice Gardham classified TUBGCP6 as green
Severe microcephaly TUBGCP6 Alice Gardham reviewed TUBGCP6
Severe microcephaly PQBP1 Alice Gardham marked PQBP1 as ready
Severe microcephaly PQBP1 Alice Gardham added PQBP1 to panel
Severe microcephaly PQBP1 Alice Gardham reviewed PQBP1
Severe microcephaly RNU4ATAC Alice Gardham marked RNU4ATAC as ready
Severe microcephaly RNU4ATAC Alice Gardham classified RNU4ATAC as green
Severe microcephaly RNU4ATAC Alice Gardham reviewed RNU4ATAC
Severe microcephaly EFTUD2 Alice Gardham marked EFTUD2 as ready
Severe microcephaly EFTUD2 Alice Gardham classified EFTUD2 as green
Severe microcephaly EFTUD2 Alice Gardham added EFTUD2 to panel
Severe microcephaly EFTUD2 Alice Gardham reviewed EFTUD2
Severe microcephaly IGF1R Alice Gardham marked IGF1R as ready
Severe microcephaly IGF1R Alice Gardham reviewed IGF1R
Severe microcephaly IGF1 Alice Gardham marked IGF1 as ready
Severe microcephaly IGF1 Alice Gardham reviewed IGF1
Severe microcephaly KIF11 Alice Gardham marked KIF11 as ready
Severe microcephaly KIF11 Alice Gardham classified KIF11 as green
Severe microcephaly KIF11 Alice Gardham commented on KIF11
Severe microcephaly GMNN Alice Gardham marked GMNN as ready
Severe microcephaly GMNN Alice Gardham classified GMNN as green
Severe microcephaly GMNN Alice Gardham reviewed GMNN
Severe microcephaly CDC6 Alice Gardham reviewed CDC6
Severe microcephaly CDT1 Alice Gardham marked CDT1 as ready
Severe microcephaly CDT1 Alice Gardham classified CDT1 as green
Severe microcephaly CDT1 Alice Gardham reviewed CDT1
Severe microcephaly ORC6 Alice Gardham marked ORC6 as ready
Severe microcephaly ORC6 Alice Gardham classified ORC6 as green
Severe microcephaly ORC6 Alice Gardham reviewed ORC6
Severe microcephaly ORC4 Alice Gardham marked ORC4 as ready
Severe microcephaly ORC4 Alice Gardham classified ORC4 as green
Severe microcephaly ORC4 Alice Gardham reviewed ORC4
Severe microcephaly ORC1 Alice Gardham marked ORC1 as ready
Severe microcephaly ORC1 Alice Gardham classified ORC1 as green
Severe microcephaly ORC1 Alice Gardham classified ORC1 as green
Severe microcephaly ORC1 Alice Gardham reviewed ORC1
Severe microcephaly CEP63 Alice Gardham classified CEP63 as green
Severe microcephaly CEP63 Alice Gardham reviewed CEP63
Severe microcephaly RBBP8 Alice Gardham reviewed RBBP8
Severe microcephaly ATRIP Alice Gardham marked ATRIP as ready
Severe microcephaly ATR Alice Gardham marked ATR as ready
Severe microcephaly ATR Alice Gardham classified ATR as green
Severe microcephaly ATR Alice Gardham reviewed ATR
Severe microcephaly CEP135 Alice Gardham marked CEP135 as ready
Severe microcephaly CEP135 Alice Gardham classified CEP135 as green
Severe microcephaly CEP135 Alice Gardham classified CEP135 as amber
Severe microcephaly CEP135 Alice Gardham reviewed CEP135
Severe microcephaly RNU4ATAC Ellen McDonagh commented on RNU4ATAC
Severe microcephaly DNA2 Rebecca Foulger marked DNA2 as ready
Severe microcephaly DNA2 Rebecca Foulger commented on DNA2
Severe microcephaly DNA2 Rebecca Foulger commented on DNA2
Severe microcephaly NIN Rebecca Foulger marked NIN as ready
Severe microcephaly NIN Rebecca Foulger commented on NIN
Severe microcephaly SLC25A19 Rebecca Foulger commented on SLC25A19
Severe microcephaly CKAP2L Rebecca Foulger commented on CKAP2L
Severe microcephaly KIF11 Rebecca Foulger commented on KIF11
Severe microcephaly CASK Rebecca Foulger commented on CASK
Severe microcephaly PHC1 Rebecca Foulger commented on PHC1
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6
Severe microcephaly WDR4 Rebecca Foulger commented on WDR4
Severe microcephaly CASC5 Rebecca Foulger commented on CASC5
Severe microcephaly CENPE Rebecca Foulger commented on CENPE
Severe microcephaly SASS6 Rebecca Foulger commented on SASS6
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly NDE1 Rebecca Foulger commented on NDE1
Severe microcephaly CIT Rebecca Foulger commented on CIT
Severe microcephaly CDK6 Rebecca Foulger commented on CDK6
Severe microcephaly ATRIP Rebecca Foulger commented on ATRIP
Severe microcephaly ASPM Rebecca Foulger commented on ASPM
Severe microcephaly ASPM Rebecca Foulger commented on ASPM
Severe microcephaly AGMO Rebecca Foulger commented on AGMO
Severe microcephaly LARP7 Richard Scott added LARP7 to panel
Severe microcephaly LARP7 Richard Scott reviewed LARP7