Activity

Filter

Cancel
Date Panel Item Activity
152 actions
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 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 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 v2.2 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 v1.76 AR_CAG Ivone Leong commented on STR: AR_CAG
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 v1.72 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 v1.69 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 v1.67 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 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 v1.60 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 v1.57 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 v1.53 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 v1.48 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 v1.46 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 v1.43 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 v1.33 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 v1.30 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS 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 v1.18 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 v1.15 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-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 AR Arianna Tucci classified AR as Green List (high evidence)
Paediatric motor neuronopathies AR Ellen McDonagh Added STR to panel
Paediatric motor neuronopathies TRPV4 Arianna Tucci marked TRPV4 as ready
Paediatric motor neuronopathies TRPV4 Arianna Tucci marked TRPV4 as ready
Paediatric motor neuronopathies SNRPN Arianna Tucci marked SNRPN as ready
Paediatric motor neuronopathies REEP1 Arianna Tucci marked REEP1 as ready
Paediatric motor neuronopathies ATP7A Arianna Tucci marked ATP7A as ready
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 marked ALS2 as ready
Paediatric motor neuronopathies SIGMAR1 Pinki Munot reviewed SIGMAR1
Paediatric motor neuronopathies AARS Pinki Munot reviewed AARS
Paediatric motor neuronopathies AR Pinki Munot reviewed AR
Paediatric motor neuronopathies AARS Arianna Tucci reviewed AARS
Paediatric motor neuronopathies SLC5A7 Alice Gardham marked SLC5A7 as ready
Paediatric motor neuronopathies REEP1 Alice Gardham marked REEP1 as ready
Paediatric motor neuronopathies FBXO38 Alice Gardham marked FBXO38 as ready
Paediatric motor neuronopathies EXOSC3 Alice Gardham marked EXOSC3 as ready
Paediatric motor neuronopathies VRK1 Alice Gardham marked VRK1 as ready
Paediatric motor neuronopathies TRIP4 Alice Gardham marked TRIP4 as ready
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 UBQLN1 Alice Gardham marked UBQLN1 as ready
Paediatric motor neuronopathies ASAH1 Alice Gardham marked ASAH1 as ready
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 AR Ellen McDonagh commented on AR
Paediatric motor neuronopathies AR Dragana Josifova reviewed AR
Paediatric motor neuronopathies DMPK Alice Gardham marked DMPK as ready
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 GARS Alice Gardham classified GARS as red
Paediatric motor neuronopathies GARS Alice Gardham commented on GARS
Paediatric motor neuronopathies AARS Alice Gardham classified AARS as red
Paediatric motor neuronopathies AARS Alice Gardham commented on AARS
Paediatric motor neuronopathies AR Alice Gardham classified AR as green
Paediatric motor neuronopathies AR Alice Gardham commented on AR