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Paediatric motor neuronopathies v3.4 Eleanor Williams Panel version 3.3 has been signed off on 2023-03-22
Paediatric motor neuronopathies v3.3 Eleanor Williams Panel signed off version 3.0 has been removed
Paediatric motor neuronopathies v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2023-03-22
Paediatric motor neuronopathies v3.0 Eleanor Williams promoted panel to version 3.0
Paediatric motor neuronopathies v2.11 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to 34726235
Paediatric motor neuronopathies v2.10 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to
Paediatric motor neuronopathies v2.9 ISCA-37429-Loss Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
Paediatric motor neuronopathies v2.8 ISCA-37420-Loss Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Paediatric motor neuronopathies v2.7 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field:

PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Paediatric motor neuronopathies v2.7 ISCA-37408-Loss Arina Puzriakova commented on Region: ISCA-37408-Loss
Paediatric motor neuronopathies v2.7 ISCA-37408-Loss Arina Puzriakova Phenotypes for Region: ISCA-37408-Loss were changed from 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 to Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Paediatric motor neuronopathies v2.6 AR Arina Puzriakova Tag Q2_21_rating was removed from gene: AR.
Tag Q2_21_MOI was removed from gene: AR.
Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Paediatric motor neuronopathies v2.5 AR Arina Puzriakova commented on gene: AR: The rating of this gene has been updated to Red and the mode of inheritance set to 'Other' following NHS Genomic Medicine Service approval.
Paediatric motor neuronopathies v2.4 AR Arina Puzriakova Source NHS GMS was added to AR.
Source Expert Review Red was added to AR.
Mode of inheritance for gene AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric motor neuronopathies v2.3 AR_CAG Arina Puzriakova Tag Q2_21_rating was removed from STR: AR_CAG.
Paediatric motor neuronopathies v2.3 AR_CAG Arina Puzriakova edited their review of STR: AR_CAG: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Paediatric motor neuronopathies v2.3 SLC52A2 Achchuthan Shanmugasundram Publications for gene: SLC52A2 were set to 23243084; 22864630
Paediatric motor neuronopathies v2.2 SLC52A2 Achchuthan Shanmugasundram Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, OMIM:614707 to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867; Hereditary sensory and autonomic neuropathy, MONDO:0015364
Paediatric motor neuronopathies v2.1 SLC52A2 Achchuthan Shanmugasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740598, 22864630, 23243084, 24253200, 30343981, 30377535, 31868069, 32909658, 35608644, 36186484; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Hereditary sensory and autonomic neuropathy, MONDO:0015364, Progressive bulbar palsy, MONDO:0008890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric motor neuronopathies v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Paediatric motor neuronopathies v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Paediatric motor neuronopathies v1.79 SNRPN Arina Puzriakova Publications for gene: SNRPN were set to 10802660; 8723064
Paediatric motor neuronopathies v1.78 SETX Sarah Leigh Publications for gene: SETX were set to 15106121
Paediatric motor neuronopathies v1.77 ISCA-37429-Loss Arina Puzriakova commented on Region: ISCA-37429-Loss
Paediatric motor neuronopathies v1.77 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss
Paediatric motor neuronopathies v1.77 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Paediatric motor neuronopathies v1.77 ISCA-37408-Loss Ivone Leong commented on Region: ISCA-37408-Loss
Paediatric motor neuronopathies v1.77 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss
Paediatric motor neuronopathies v1.77 ISCA-37429-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37408-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37408-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37420-Loss Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514.
Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.76 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Paediatric motor neuronopathies v1.76 AR_CAG Ivone Leong commented on STR: AR_CAG
Paediatric motor neuronopathies v1.74 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Paediatric motor neuronopathies v1.74 AR_CAG Arina Puzriakova GRCh37 position for AR_CAG was changed from - to 66765160-66765225.
Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Paediatric motor neuronopathies v1.73 SNRPN Sarah Leigh Phenotypes for gene: SNRPN were changed from Prader-Willi syndrome 176270 to Prader-Willi syndrome, OMIM:176270
Paediatric motor neuronopathies v1.72 AR Arina Puzriakova Tag Q2_21_MOI tag was added to gene: AR.
Paediatric motor neuronopathies v1.72 AR Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed to 'Other' to maintain consistency with other panels for this phenotype due to lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Paediatric motor neuronopathies v1.72 AR Arina Puzriakova Mode of inheritance for gene: AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric motor neuronopathies v1.71 AR_CAG Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this STR to Green at the next GMS panel update.

The AR gene was already Green on this panel for Kennedy disease, MIM# 313200 (https://panelapp.genomicsengland.co.uk/panels/79/gene/AR/); however, this was downgraded as the disease mechanism is an expansion of 36 or more CAG trinucleotide repeats in the AR gene and there is a lack of phenotypic relevance for SNVs. STR testing is appropriate route for detecting cases.; to: Comment on list classification: There is sufficient evidence to promote this STR to Green at the next GMS panel update.

The AR gene was Green on this panel for Kennedy disease, MIM# 313200 (https://panelapp.genomicsengland.co.uk/panels/79/gene/AR/); however, this has been flagged to be downgraded as the disease mechanism is an expansion of 36 or more CAG trinucleotide repeats in the AR gene and there is a lack of phenotypic relevance for SNVs. STR testing is appropriate route for detecting cases.
Paediatric motor neuronopathies v1.71 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Paediatric motor neuronopathies v1.70 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Paediatric motor neuronopathies v1.70 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Paediatric motor neuronopathies v1.69 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14. to Myotonic dystrophy 1, OMIM:160900
Paediatric motor neuronopathies v1.68 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric motor neuronopathies v1.67 AR_CAG Arina Puzriakova Phenotypes for STR: AR_CAG were changed from spinal and bulbar muscular atrophy; gynecomastia; muscular weakness to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Paediatric motor neuronopathies v1.66 AR_CAG Arina Puzriakova Publications for STR: AR_CAG were set to
Paediatric motor neuronopathies v1.65 AR_CAG Arina Puzriakova Tag STR tag was added to STR: AR_CAG.
Tag Q2_21_rating tag was added to STR: AR_CAG.
Paediatric motor neuronopathies v1.65 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Amber List (moderate evidence)
Paediatric motor neuronopathies v1.65 AR_CAG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this STR to Green at the next GMS panel update.

The AR gene was already Green on this panel for Kennedy disease, MIM# 313200 (https://panelapp.genomicsengland.co.uk/panels/79/gene/AR/); however, this was downgraded as the disease mechanism is an expansion of 36 or more CAG trinucleotide repeats in the AR gene and there is a lack of phenotypic relevance for SNVs. STR testing is appropriate route for detecting cases.
Paediatric motor neuronopathies v1.65 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Amber List (Moderate Evidence).
Paediatric motor neuronopathies v1.64 AR Arina Puzriakova Publications for gene: AR were set to
Paediatric motor neuronopathies v1.63 AR Arina Puzriakova Tag Q2_21_rating tag was added to gene: AR.
Paediatric motor neuronopathies v1.63 AR Arina Puzriakova changed review comment from: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) is already Green on this panel which is the appropriate route for detecting cases.; to: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) has been added to this panel with the recommendation of a Green classification at the next GMS review, which is the appropriate route for detecting cases.
Paediatric motor neuronopathies v1.63 AR Arina Puzriakova Classified gene: AR as Green List (high evidence)
Paediatric motor neuronopathies v1.63 AR Arina Puzriakova Added comment: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) is already Green on this panel which is the appropriate route for detecting cases.
Paediatric motor neuronopathies v1.63 AR Arina Puzriakova Gene: ar has been classified as Green List (High Evidence).
Paediatric motor neuronopathies v1.62 AR_CAG Dmitrijs Rots STR: AR_CAG was added
STR: AR_CAG was added to Paediatric motor neuronopathies. Sources: Literature
Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for STR: AR_CAG were set to spinal and bulbar muscular atrophy; gynecomastia; muscular weakness
Penetrance for STR: AR_CAG were set to Complete
Review for STR: AR_CAG was set to GREEN
STR: AR_CAG was marked as current diagnostic
Added comment: Sources: Literature
Paediatric motor neuronopathies v1.62 AR Dmitrijs Rots reviewed gene: AR: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SBMA; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Paediatric motor neuronopathies v1.62 DCTN1 Dmitrijs Rots Deleted their review
Paediatric motor neuronopathies v1.62 DCTN1 Dmitrijs Rots reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric motor neuronopathies v1.62 VAPB Ivone Leong Phenotypes for gene: VAPB were changed from Spinal muscular atrophy, late-onset, Finkel type 182980; Amyotrophic lateral sclerosis 8 608627 to Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980; Amyotrophic lateral sclerosis 8, OMIM:608627
Paediatric motor neuronopathies v1.61 SETX Ivone Leong Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Paediatric motor neuronopathies v1.60 REEP1 Ivone Leong Phenotypes for gene: REEP1 were changed from ?Neuronopathy, distal hereditary motor, type VB 614751 to ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751
Paediatric motor neuronopathies v1.59 HSPB8 Ivone Leong Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor, type IIA, OMIM:158590
Paediatric motor neuronopathies v1.58 HSPB8 Ivone Leong Publications for gene: HSPB8 were set to 15122253
Paediatric motor neuronopathies v1.57 HSPB1 Ivone Leong Phenotypes for gene: HSPB1 were changed from to Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
Paediatric motor neuronopathies v1.56 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081; neuronopathy, distal hereditary motor, MONDO:0000075
Paediatric motor neuronopathies v1.55 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Paediatric motor neuronopathies v1.55 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C 616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Paediatric motor neuronopathies v1.54 ATP7A Ivone Leong Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric motor neuronopathies v1.53 ATP7A Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 to Menkes disease, OMIM:309400; Occipital horn syndrome, OMIM:304150; Spinal muscular atrophy, distal, X-linked 3, OMIM:300489
Paediatric motor neuronopathies v1.52 ALS2 Ivone Leong Phenotypes for gene: ALS2 were changed from juvenile amyotrophic lateral sclerosis-2, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Spastic paralysis, infantile onset ascending, OMIM:607225
Paediatric motor neuronopathies v1.51 VRK1 Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, OMIM:607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
Paediatric motor neuronopathies v1.51 VRK1 Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A 607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
Paediatric motor neuronopathies v1.50 UBA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile Spinal Muscular Atrophy, X-Linked;Spinal muscular atrophy, X-linked 2, infantile, 301830
Paediatric motor neuronopathies v1.50 UBA1 Ivone Leong Phenotypes for gene: UBA1 were changed from Infantile Spinal Muscular Atrophy, X-Linked; Spinal muscular atrophy, X-linked 2, infantile, 301830 to Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Paediatric motor neuronopathies v1.49 UBA1 Ivone Leong Publications for gene: UBA1 were set to PMID: 23518311
Paediatric motor neuronopathies v1.48 TRPV4 Ivone Leong Phenotypes for gene: TRPV4 were changed from Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500 to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, OMIM:113500
Paediatric motor neuronopathies v1.47 SPG11 Ivone Leong Phenotypes for gene: SPG11 were changed from Amyotrophic lateral sclerosis 5, juvenile 602099 to Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Paediatric motor neuronopathies v1.46 SMN1 Ivone Leong Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150 to Spinal muscular atrophy 1, OMIM:253300; Spinal muscular atrophy 2, OMIM:253550; Spinal muscular atrophy 3, OMIM:253400; Spinal muscular atrophy 4, OMIM:271150
Paediatric motor neuronopathies v1.45 SLC52A3 Ivone Leong Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Paediatric motor neuronopathies v1.44 SLC52A2 Ivone Leong Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707
Paediatric motor neuronopathies v1.43 IGHMBP2 Ivone Leong Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress, 604320 to Neuronopathy, distal hereditary motor, type VI, OMIM:604320
Paediatric motor neuronopathies v1.42 EXOSC3 Ivone Leong Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Paediatric motor neuronopathies v1.41 DYNC1H1 Ivone Leong Phenotypes for gene: DYNC1H1 were changed from Spinal muscular atrophy, lower extremity-predominant, AD, 158600 to Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
Paediatric motor neuronopathies v1.40 CHCHD10 Ivone Leong Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type 615048 to Spinal muscular atrophy, Jokela type, OMIM:615048
Paediatric motor neuronopathies v1.39 BICD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Paediatric motor neuronopathies v1.39 BICD2 Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Paediatric motor neuronopathies v1.38 BICD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Paediatric motor neuronopathies v1.38 BICD2 Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Paediatric motor neuronopathies v1.37 ASAH1 Ivone Leong Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 to Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Paediatric motor neuronopathies v1.36 AR Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
Paediatric motor neuronopathies v1.36 AR Ivone Leong Phenotypes for gene: AR were changed from Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Paediatric motor neuronopathies v1.35 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 616866 to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
Paediatric motor neuronopathies v1.34 SMN1 Eleanor Williams Publications for gene: SMN1 were set to 7813012
Paediatric motor neuronopathies v1.33 SMN1 Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None
Paediatric motor neuronopathies v1.33 CHCHD10 Eleanor Williams Publications for gene: CHCHD10 were set to 25428574
Paediatric motor neuronopathies v1.32 CHCHD10 Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None
Paediatric motor neuronopathies v1.31 Catherine Snow Panel version has been signed off
Paediatric motor neuronopathies v1.30 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Paediatric motor neuronopathies v1.29 Catherine Snow Panel version has been signed off
Paediatric motor neuronopathies v1.28 Catherine Snow Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off
Paediatric motor neuronopathies v1.26 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Paediatric motor neuronopathies v1.24 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Paediatric motor neuronopathies v1.23 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Paediatric motor neuronopathies v1.23 GARS Louise Daugherty commented on gene: GARS
Paediatric motor neuronopathies v1.23 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Paediatric motor neuronopathies v1.23 AARS Louise Daugherty commented on gene: AARS
Paediatric motor neuronopathies v1.21 Louise Daugherty removed STR:AR_CAG from the panel
Paediatric motor neuronopathies v1.20 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 to Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150
Paediatric motor neuronopathies v1.19 DMPK_CTG Louise Daugherty Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Classified STR: AR_CAG as No list
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Str: ar_cag has been removed from the panel.
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Marked STR: AR_CAG as ready
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Str: ar_cag has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Marked STR: AR_CAG as ready
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Str: ar_cag has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Classified STR: AR_CAG as Red List (low evidence)
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Str: ar_cag has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Red List (low evidence)
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.15 DMPK_CTG Arianna Tucci edited their review of STR: DMPK_CTG: Changed rating: RED
Paediatric motor neuronopathies v1.15 DMPK_CTG Arianna Tucci Deleted their comment
Paediatric motor neuronopathies v1.15 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Paediatric motor neuronopathies v1.14 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105833; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Paediatric motor neuronopathies v1.14 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Paediatric motor neuronopathies. 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
Paediatric motor neuronopathies v1.14 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Paediatric motor neuronopathies v1.14 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Paediatric motor neuronopathies v1.14 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Paediatric motor neuronopathies SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Paediatric motor neuronopathies DMPK Arianna Tucci classified DMPK as Green List (high evidence)
Paediatric motor neuronopathies AR Arianna Tucci classified AR as Green List (high evidence)
Paediatric motor neuronopathies DMPK Ellen McDonagh Added STR to panel
Paediatric motor neuronopathies AR Ellen McDonagh Added STR to panel
Paediatric motor neuronopathies SMN1 Ellen McDonagh commented on SMN1
Paediatric motor neuronopathies SNRPN Ellen McDonagh classified SNRPN as red
Paediatric motor neuronopathies SNRPN Ellen McDonagh commented on SNRPN
Paediatric motor neuronopathies Arianna Tucci promoted panel to version 1
Paediatric motor neuronopathies TRPV4 Arianna Tucci marked TRPV4 as ready
Paediatric motor neuronopathies TRPV4 Arianna Tucci classified TRPV4 as green
Paediatric motor neuronopathies TRPV4 Arianna Tucci marked TRPV4 as ready
Paediatric motor neuronopathies SNRPN Arianna Tucci marked SNRPN as ready
Paediatric motor neuronopathies SNRPN Arianna Tucci commented on SNRPN
Paediatric motor neuronopathies SNRPN Arianna Tucci classified SNRPN as green
Paediatric motor neuronopathies REEP1 Arianna Tucci marked REEP1 as ready
Paediatric motor neuronopathies REEP1 Arianna Tucci commented on REEP1
Paediatric motor neuronopathies REEP1 Arianna Tucci classified REEP1 as amber
Paediatric motor neuronopathies ATP7A Arianna Tucci marked ATP7A as ready
Paediatric motor neuronopathies ATP7A Arianna Tucci classified ATP7A as amber
Paediatric motor neuronopathies AARS Arianna Tucci marked AARS as ready
Paediatric motor neuronopathies VAPB Arianna Tucci marked VAPB as ready
Paediatric motor neuronopathies SETX Arianna Tucci marked SETX as ready
Paediatric motor neuronopathies HSPB8 Arianna Tucci marked HSPB8 as ready
Paediatric motor neuronopathies HSPB1 Arianna Tucci marked HSPB1 as ready
Paediatric motor neuronopathies EXOSC8 Arianna Tucci marked EXOSC8 as ready
Paediatric motor neuronopathies ALS2 Arianna Tucci marked ALS2 as ready
Paediatric motor neuronopathies ALS2 Arianna Tucci classified ALS2 as amber
Paediatric motor neuronopathies ALS2 Arianna Tucci marked ALS2 as ready
Paediatric motor neuronopathies BSCL2 Pinki Munot reviewed BSCL2
Paediatric motor neuronopathies REEP1 Pinki Munot reviewed REEP1
Paediatric motor neuronopathies SIGMAR1 Pinki Munot reviewed SIGMAR1
Paediatric motor neuronopathies DMPK Pinki Munot reviewed DMPK
Paediatric motor neuronopathies SNRPN Pinki Munot reviewed SNRPN
Paediatric motor neuronopathies UBQLN1 Pinki Munot reviewed UBQLN1
Paediatric motor neuronopathies AARS Pinki Munot reviewed AARS
Paediatric motor neuronopathies VAPB Pinki Munot reviewed VAPB
Paediatric motor neuronopathies SETX Pinki Munot reviewed SETX
Paediatric motor neuronopathies ATP7A Pinki Munot reviewed ATP7A
Paediatric motor neuronopathies SYT2 Pinki Munot reviewed SYT2
Paediatric motor neuronopathies SLC52A1 Pinki Munot reviewed SLC52A1
Paediatric motor neuronopathies TRIP4 Pinki Munot reviewed TRIP4
Paediatric motor neuronopathies ALS2 Pinki Munot reviewed ALS2
Paediatric motor neuronopathies UBA1 Pinki Munot reviewed UBA1
Paediatric motor neuronopathies VRK1 Pinki Munot reviewed VRK1
Paediatric motor neuronopathies SLC5A7 Pinki Munot reviewed SLC5A7
Paediatric motor neuronopathies EXOSC8 Pinki Munot reviewed EXOSC8
Paediatric motor neuronopathies SPG11 Pinki Munot reviewed SPG11
Paediatric motor neuronopathies SMN1 Pinki Munot reviewed SMN1
Paediatric motor neuronopathies TRPV4 Pinki Munot reviewed TRPV4
Paediatric motor neuronopathies SLC52A3 Pinki Munot reviewed SLC52A3
Paediatric motor neuronopathies SLC52A2 Pinki Munot reviewed SLC52A2
Paediatric motor neuronopathies IGHMBP2 Pinki Munot reviewed IGHMBP2
Paediatric motor neuronopathies EXOSC3 Pinki Munot reviewed EXOSC3
Paediatric motor neuronopathies DYNC1H1 Pinki Munot reviewed DYNC1H1
Paediatric motor neuronopathies CHCHD10 Pinki Munot reviewed CHCHD10
Paediatric motor neuronopathies BICD2 Pinki Munot edited their review of BICD2
Paediatric motor neuronopathies BICD2 Pinki Munot edited their review of BICD2
Paediatric motor neuronopathies BICD2 Pinki Munot reviewed BICD2
Paediatric motor neuronopathies ASAH1 Pinki Munot reviewed ASAH1
Paediatric motor neuronopathies AR Pinki Munot reviewed AR
Paediatric motor neuronopathies TRPV4 Arianna Tucci reviewed TRPV4
Paediatric motor neuronopathies AARS Arianna Tucci reviewed AARS
Paediatric motor neuronopathies VAPB Arianna Tucci reviewed VAPB
Paediatric motor neuronopathies SETX Arianna Tucci reviewed SETX
Paediatric motor neuronopathies HSPB8 Arianna Tucci reviewed HSPB8
Paediatric motor neuronopathies HSPB1 Arianna Tucci reviewed HSPB1
Paediatric motor neuronopathies EXOSC8 Arianna Tucci reviewed EXOSC8
Paediatric motor neuronopathies ALS2 Arianna Tucci commented on ALS2
Paediatric motor neuronopathies ALS2 Arianna Tucci reviewed ALS2
Paediatric motor neuronopathies CHCHD10 Alice Gardham classified CHCHD10 as green
Paediatric motor neuronopathies SLC5A7 Alice Gardham marked SLC5A7 as ready
Paediatric motor neuronopathies SLC5A7 Alice Gardham added SLC5A7 to panel
Paediatric motor neuronopathies SLC5A7 Alice Gardham reviewed SLC5A7
Paediatric motor neuronopathies REEP1 Alice Gardham marked REEP1 as ready
Paediatric motor neuronopathies REEP1 Alice Gardham added REEP1 to panel
Paediatric motor neuronopathies REEP1 Alice Gardham reviewed REEP1
Paediatric motor neuronopathies FBXO38 Alice Gardham marked FBXO38 as ready
Paediatric motor neuronopathies FBXO38 Alice Gardham added FBXO38 to panel
Paediatric motor neuronopathies FBXO38 Alice Gardham reviewed FBXO38
Paediatric motor neuronopathies EXOSC8 Alice Gardham classified EXOSC8 as amber
Paediatric motor neuronopathies EXOSC8 Alice Gardham added EXOSC8 to panel
Paediatric motor neuronopathies EXOSC8 Alice Gardham reviewed EXOSC8
Paediatric motor neuronopathies EXOSC3 Alice Gardham marked EXOSC3 as ready
Paediatric motor neuronopathies EXOSC3 Alice Gardham added EXOSC3 to panel
Paediatric motor neuronopathies EXOSC3 Alice Gardham reviewed EXOSC3
Paediatric motor neuronopathies VRK1 Alice Gardham marked VRK1 as ready
Paediatric motor neuronopathies VRK1 Alice Gardham added VRK1 to panel
Paediatric motor neuronopathies VRK1 Alice Gardham reviewed VRK1
Paediatric motor neuronopathies TRIP4 Alice Gardham marked TRIP4 as ready
Paediatric motor neuronopathies TRIP4 Alice Gardham classified TRIP4 as green
Paediatric motor neuronopathies TRIP4 Alice Gardham added TRIP4 to panel
Paediatric motor neuronopathies TRIP4 Alice Gardham reviewed TRIP4
Paediatric motor neuronopathies SLC52A1 Alice Gardham marked SLC52A1 as ready
Paediatric motor neuronopathies UBA1 Alice Gardham marked UBA1 as ready
Paediatric motor neuronopathies SMN1 Alice Gardham marked SMN1 as ready
Paediatric motor neuronopathies SPG11 Alice Gardham marked SPG11 as ready
Paediatric motor neuronopathies VAPB Alice Gardham classified VAPB as amber
Paediatric motor neuronopathies UBQLN1 Alice Gardham marked UBQLN1 as ready
Paediatric motor neuronopathies SPG11 Alice Gardham classified SPG11 as green
Paediatric motor neuronopathies HSPB1 Alice Gardham classified HSPB1 as amber
Paediatric motor neuronopathies HSPB8 Alice Gardham classified HSPB8 as amber
Paediatric motor neuronopathies HSPB8 Alice Gardham classified HSPB8 as green
Paediatric motor neuronopathies DYNC1H1 Alice Gardham classified DYNC1H1 as green
Paediatric motor neuronopathies CHCHD10 Alice Gardham classified CHCHD10 as green
Paediatric motor neuronopathies BICD2 Alice Gardham classified BICD2 as green
Paediatric motor neuronopathies ASAH1 Alice Gardham marked ASAH1 as ready
Paediatric motor neuronopathies ASAH1 Alice Gardham classified ASAH1 as green
Paediatric motor neuronopathies ASAH1 Alice Gardham reviewed ASAH1
Paediatric motor neuronopathies SETX Alice Gardham classified SETX as amber
Paediatric motor neuronopathies SIGMAR1 Alice Gardham marked SIGMAR1 as ready
Paediatric motor neuronopathies SIGMAR1 Alice Gardham added SIGMAR1 to panel
Paediatric motor neuronopathies SIGMAR1 Alice Gardham reviewed SIGMAR1
Paediatric motor neuronopathies SPG11 Alice Gardham added SPG11 to panel
Paediatric motor neuronopathies SPG11 Alice Gardham reviewed SPG11
Paediatric motor neuronopathies SETX Alice Gardham added SETX to panel
Paediatric motor neuronopathies SETX Alice Gardham reviewed SETX
Paediatric motor neuronopathies UBQLN1 Alice Gardham added UBQLN1 to panel
Paediatric motor neuronopathies UBQLN1 Alice Gardham reviewed UBQLN1
Paediatric motor neuronopathies VAPB Alice Gardham classified VAPB as red
Paediatric motor neuronopathies VAPB Alice Gardham reviewed VAPB
Paediatric motor neuronopathies UBA1 Alice Gardham classified UBA1 as green
Paediatric motor neuronopathies MEG3 Ellen McDonagh commented on MEG3
Paediatric motor neuronopathies AR Ellen McDonagh commented on AR
Paediatric motor neuronopathies ALS2 Dragana Josifova reviewed ALS2
Paediatric motor neuronopathies UBA1 Dragana Josifova reviewed UBA1
Paediatric motor neuronopathies AR Dragana Josifova reviewed AR
Paediatric motor neuronopathies IGHMBP2 Dragana Josifova reviewed IGHMBP2
Paediatric motor neuronopathies SMN1 Dragana Josifova reviewed SMN1
Paediatric motor neuronopathies SLC52A2 Dragana Josifova reviewed SLC52A2
Paediatric motor neuronopathies SLC52A3 Dragana Josifova reviewed SLC52A3
Paediatric motor neuronopathies DMPK Alice Gardham marked DMPK as ready
Paediatric motor neuronopathies DMPK Alice Gardham classified DMPK as red
Paediatric motor neuronopathies DMPK Alice Gardham commented on DMPK
Paediatric motor neuronopathies DMPK Alice Gardham classified DMPK as green
Paediatric motor neuronopathies AR Alice Gardham marked AR as ready
Paediatric motor neuronopathies TRPV4 Alice Gardham marked TRPV4 as ready
Paediatric motor neuronopathies SYT2 Alice Gardham marked SYT2 as ready
Paediatric motor neuronopathies SNRPN Alice Gardham marked SNRPN as ready
Paediatric motor neuronopathies PLEKHG5 Alice Gardham marked PLEKHG5 as ready
Paediatric motor neuronopathies PLEKHG5 Alice Gardham marked PLEKHG5 as ready
Paediatric motor neuronopathies MEG3 Alice Gardham marked MEG3 as ready
Paediatric motor neuronopathies HSPB8 Alice Gardham marked HSPB8 as ready
Paediatric motor neuronopathies HSPB3 Alice Gardham marked HSPB3 as ready
Paediatric motor neuronopathies HSPB1 Alice Gardham marked HSPB1 as ready
Paediatric motor neuronopathies GARS Alice Gardham marked GARS as ready
Paediatric motor neuronopathies DYNC1H1 Alice Gardham marked DYNC1H1 as ready
Paediatric motor neuronopathies DNAJB2 Alice Gardham marked DNAJB2 as ready
Paediatric motor neuronopathies DCTN1 Alice Gardham marked DCTN1 as ready
Paediatric motor neuronopathies CHCHD10 Alice Gardham marked CHCHD10 as ready
Paediatric motor neuronopathies BSCL2 Alice Gardham marked BSCL2 as ready
Paediatric motor neuronopathies BICD2 Alice Gardham marked BICD2 as ready
Paediatric motor neuronopathies ATP7A Alice Gardham marked ATP7A as ready
Paediatric motor neuronopathies AARS Alice Gardham marked AARS as ready
Paediatric motor neuronopathies SLC52A3 Alice Gardham marked SLC52A3 as ready
Paediatric motor neuronopathies SLC52A2 Alice Gardham marked SLC52A2 as ready
Paediatric motor neuronopathies IGHMBP2 Alice Gardham marked IGHMBP2 as ready
Paediatric motor neuronopathies DCTN1 Alice Gardham classified DCTN1 as red
Paediatric motor neuronopathies DCTN1 Alice Gardham commented on DCTN1
Paediatric motor neuronopathies SYT2 Alice Gardham classified SYT2 as red
Paediatric motor neuronopathies SYT2 Alice Gardham commented on SYT2
Paediatric motor neuronopathies SNRPN Alice Gardham classified SNRPN as red
Paediatric motor neuronopathies SNRPN Alice Gardham commented on SNRPN
Paediatric motor neuronopathies MEG3 Alice Gardham classified MEG3 as red
Paediatric motor neuronopathies MEG3 Alice Gardham commented on MEG3
Paediatric motor neuronopathies HSPB8 Alice Gardham classified HSPB8 as red
Paediatric motor neuronopathies HSPB8 Alice Gardham commented on HSPB8
Paediatric motor neuronopathies HSPB3 Alice Gardham classified HSPB3 as red
Paediatric motor neuronopathies HSPB3 Alice Gardham commented on HSPB3
Paediatric motor neuronopathies HSPB1 Alice Gardham classified HSPB1 as red
Paediatric motor neuronopathies HSPB1 Alice Gardham commented on HSPB1
Paediatric motor neuronopathies GARS Alice Gardham classified GARS as red
Paediatric motor neuronopathies GARS Alice Gardham commented on GARS
Paediatric motor neuronopathies DYNC1H1 Alice Gardham classified DYNC1H1 as red
Paediatric motor neuronopathies DYNC1H1 Alice Gardham commented on DYNC1H1
Paediatric motor neuronopathies DNAJB2 Alice Gardham classified DNAJB2 as red
Paediatric motor neuronopathies DNAJB2 Alice Gardham commented on DNAJB2
Paediatric motor neuronopathies DNAJB2 Alice Gardham classified DNAJB2 as red
Paediatric motor neuronopathies CHCHD10 Alice Gardham classified CHCHD10 as red
Paediatric motor neuronopathies CHCHD10 Alice Gardham commented on CHCHD10
Paediatric motor neuronopathies BSCL2 Alice Gardham classified BSCL2 as red
Paediatric motor neuronopathies BSCL2 Alice Gardham commented on BSCL2
Paediatric motor neuronopathies BICD2 Alice Gardham commented on BICD2
Paediatric motor neuronopathies BICD2 Alice Gardham classified BICD2 as red
Paediatric motor neuronopathies ATP7A Alice Gardham classified ATP7A as red
Paediatric motor neuronopathies ATP7A Alice Gardham commented on ATP7A
Paediatric motor neuronopathies AARS Alice Gardham commented on AARS
Paediatric motor neuronopathies AARS Alice Gardham classified AARS as red
Paediatric motor neuronopathies TRPV4 Alice Gardham classified TRPV4 as red
Paediatric motor neuronopathies TRPV4 Alice Gardham commented on TRPV4
Paediatric motor neuronopathies PLEKHG5 Alice Gardham classified PLEKHG5 as red
Paediatric motor neuronopathies PLEKHG5 Alice Gardham commented on PLEKHG5
Paediatric motor neuronopathies AR Alice Gardham classified AR as green
Paediatric motor neuronopathies AR Alice Gardham commented on AR
Paediatric motor neuronopathies ALS2 Alice Gardham added ALS2 to panel
Paediatric motor neuronopathies ALS2 Alice Gardham reviewed ALS2
Paediatric motor neuronopathies IGHMBP2 Alice Gardham classified IGHMBP2 as green
Paediatric motor neuronopathies IGHMBP2 Alice Gardham commented on IGHMBP2
Paediatric motor neuronopathies SMN1 Alice Gardham reviewed SMN1
Paediatric motor neuronopathies SLC52A1 Alice Gardham reviewed SLC52A1
Paediatric motor neuronopathies SLC52A1 Alice Gardham reviewed SLC52A1
Paediatric motor neuronopathies SLC52A2 Alice Gardham classified SLC52A2 as green
Paediatric motor neuronopathies SLC52A2 Alice Gardham reviewed SLC52A2
Paediatric motor neuronopathies SLC52A3 Alice Gardham classified SLC52A3 as green
Paediatric motor neuronopathies SLC52A3 Alice Gardham reviewed SLC52A3