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Gastrointestinal neuromuscular disease v1.24 OPA3 Bryony Thompson Marked gene: OPA3 as ready
Gastrointestinal neuromuscular disease v1.24 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.24 OPA3 Bryony Thompson Classified gene: OPA3 as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.24 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.23 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OPA3 were set to 31119193
Phenotypes for gene: OPA3 were set to Optic atrophy 3 MONDO:0008133
Mode of pathogenicity for gene: OPA3 was set to Other
Review for gene: OPA3 was set to GREEN
gene: OPA3 was marked as current diagnostic
Added comment: 11 of the 12 affected individuals from 3 families with OPA3 missense (p.Met8Thr, & p.Gln105Glu) had possible or confirmed gastrointestinal dysmotility symptoms as a feature of the condition. Haploinsufficiency is not expected to be the mechanism of disease. Gain of function or dominant negative effect have been suggested mechanisms of disease.
Sources: Literature
Gastrointestinal neuromuscular disease v1.22 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome MIM#301040 to ATR-X-related syndrome MONDO:0016980
Gastrointestinal neuromuscular disease v1.20 MIR145 Zornitza Stark Marked gene: MIR145 as ready
Gastrointestinal neuromuscular disease v1.20 MIR145 Zornitza Stark Gene: mir145 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v1.20 MIR145 Zornitza Stark Classified gene: MIR145 as Red List (low evidence)
Gastrointestinal neuromuscular disease v1.20 MIR145 Zornitza Stark Gene: mir145 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v1.19 MIR145 Lucy Spencer gene: MIR145 was added
gene: MIR145 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: MIR145 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIR145 were set to 36649075
Phenotypes for gene: MIR145 were set to multisystemic smooth muscle dysfunction syndrome (MONDO:0013452)
Review for gene: MIR145 was set to RED
Added comment: PMID: 36649075- a patient whose fetal ultrasound revealed polyhydramnios, enlarged abdomenand bladder, and prune belly syndrome. During infancy/childhood profound gastrointestinal dysmotility, cerebrovascular disease, and multiple strokes. Described as a multisystemic smooth muscle dysfunction syndrome. Patient was found to have a de novo SNP in MIR145 NR_029686.1:n.18C>A. The MIR145transcript is processed into two microRNAs, with the variant position at nucleotide 3 of miR-145-5p.

Transfection of an siRNA against mutant miR145-5p induced a notable decrease in the expression of several cytoskeletal proteins including transgelin, calponin, and importantly, smooth muscle actin. Hybridization analysis and miR RNA-seq demonstrated a decrease in expression of miR145-5p in the presence of mutant miR145-5p. RNA-seq showed that the differentially expressed genes were substantially different between patient and control fibroblasts.
Sources: Literature
Gastrointestinal neuromuscular disease v1.19 Zornitza Stark HPO terms changed from to Gastrointestinal dysmotility, HP:0002579
List of related panels changed from to Gastrointestinal dysmotility; HP:0002579
Gastrointestinal neuromuscular disease v1.18 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Gastrointestinal neuromuscular disease v1.17 MYL9 Zornitza Stark Publications for gene: MYL9 were set to 29453416; 33031641
Gastrointestinal neuromuscular disease v1.16 MYL9 Zornitza Stark Classified gene: MYL9 as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.16 MYL9 Zornitza Stark Gene: myl9 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.15 MYL9 Zornitza Stark edited their review of gene: MYL9: Added comment: PMID:32621347; 3rd family with non-consanguineous parents and 3 TOPs.; Changed rating: GREEN; Changed publications: 33031641, 32621347
Gastrointestinal neuromuscular disease v1.15 ERBB3 Zornitza Stark Phenotypes for gene: ERBB3 were changed from Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Gastrointestinal neuromuscular disease v1.14 ERBB3 Zornitza Stark edited their review of gene: ERBB3: Changed phenotypes: Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180, Complex neurocristinopathy
Gastrointestinal neuromuscular disease v1.12 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Gastrointestinal neuromuscular disease v1.12 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.12 SCN11A Zornitza Stark Classified gene: SCN11A as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.12 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.11 SCN11A Zornitza Stark gene: SCN11A was added
gene: SCN11A was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN11A were set to 27503742; 25118027
Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
Review for gene: SCN11A was set to GREEN
Added comment: Gastrointestinal dysmotility reported.
Sources: Expert list
Gastrointestinal neuromuscular disease v1.10 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Gastrointestinal neuromuscular disease v1.10 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.10 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.10 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.9 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM# 617053
Review for gene: SAMD9 was set to GREEN
Added comment: Chronic diarrhoea and colonic dilatation reported.
Sources: Expert list
Gastrointestinal neuromuscular disease v1.8 IDS Zornitza Stark Classified gene: IDS as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.8 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.7 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, MIM# 309900
Review for gene: IDS was set to GREEN
Added comment: Intestinal pseudo-obstruction reported.
Sources: Expert list
Gastrointestinal neuromuscular disease v1.6 DMD Zornitza Stark Marked gene: DMD as ready
Gastrointestinal neuromuscular disease v1.6 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.6 DMD Zornitza Stark Classified gene: DMD as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.6 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.5 DMD Zornitza Stark Tag SV/CNV tag was added to gene: DMD.
Gastrointestinal neuromuscular disease v1.5 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DMD were set to 3380114
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, MIM# 310200
Review for gene: DMD was set to GREEN
Added comment: Can rarely present with gut dysmotility.
Sources: Expert list
Gastrointestinal neuromuscular disease v1.4 DES Zornitza Stark Marked gene: DES as ready
Gastrointestinal neuromuscular disease v1.4 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.4 DES Zornitza Stark Classified gene: DES as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.4 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.3 DES Zornitza Stark gene: DES was added
gene: DES was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DES were set to Myopathy, myofibrillar, 1 , MIM#601419
Review for gene: DES was set to GREEN
Added comment: Well established gene-disease association. Primarily skeletal and cardiac involvement but gut involvement with constipation/diarrhoea reported.
Sources: Expert list
Gastrointestinal neuromuscular disease v1.2 CLMP Zornitza Stark Marked gene: CLMP as ready
Gastrointestinal neuromuscular disease v1.2 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.2 CLMP Zornitza Stark Classified gene: CLMP as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.2 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.1 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLMP were set to 22155368
Phenotypes for gene: CLMP were set to Congenital short bowel syndrome , MIM#615237
Review for gene: CLMP was set to GREEN
Added comment: Well established gene-disease association, phenotypic overlap.
Sources: Expert list
Gastrointestinal neuromuscular disease v1.0 Zornitza Stark promoted panel to version 1.0
Gastrointestinal neuromuscular disease v0.69 ERBB3 Zornitza Stark Phenotypes for gene: ERBB3 were changed from Neurodevelopmental disorder with gut dysmotility to Complex neurocristinopathy
Gastrointestinal neuromuscular disease v0.68 ERBB3 Zornitza Stark edited their review of gene: ERBB3: Changed phenotypes: Complex neurocristinopathy
Gastrointestinal neuromuscular disease v0.68 ERBB3 Zornitza Stark changed review comment from: 6 individuals from 4 unrelated families reported with severe gut dysmotility and neurodevelopmental disorder. Note variants in this gene have also recently been linked to Hirschsprung's disease.
Sources: Literature; to: 6 individuals from 4 unrelated families reported with severe gut dysmotility and other features of neurocristinopathy including short-segment HSCR, progressive axonal peripheral neuropathy, dysautonomia, hypopigmentation, deafness. Note variants in this gene have also recently been linked to Hirschsprung's disease.
Sources: Literature
Gastrointestinal neuromuscular disease v0.68 ERBB3 Zornitza Stark Marked gene: ERBB3 as ready
Gastrointestinal neuromuscular disease v0.68 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.68 ERBB3 Zornitza Stark Classified gene: ERBB3 as Green List (high evidence)
Gastrointestinal neuromuscular disease v0.68 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.67 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 33497358
Phenotypes for gene: ERBB3 were set to Neurodevelopmental disorder with gut dysmotility
Review for gene: ERBB3 was set to GREEN
Added comment: 6 individuals from 4 unrelated families reported with severe gut dysmotility and neurodevelopmental disorder. Note variants in this gene have also recently been linked to Hirschsprung's disease.
Sources: Literature
Gastrointestinal neuromuscular disease v0.66 POLG Zornitza Stark Marked gene: POLG as ready
Gastrointestinal neuromuscular disease v0.66 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.66 POLG Zornitza Stark Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Gastrointestinal neuromuscular disease v0.65 POLG Zornitza Stark Publications for gene: POLG were set to
Gastrointestinal neuromuscular disease v0.64 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 22006280; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.64 FLNA Zornitza Stark Publications for gene: FLNA were set to 17357080; 23037936; 33464596
Gastrointestinal neuromuscular disease v0.63 FLNA Zornitza Stark changed review comment from: Variants in FLNA cause a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, and intellectual disability.

At least 4 families reported with predominantly intestinal phenotype with dysmotility and obstruction +/- short bowel.; to: Variants in FLNA cause a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, and intellectual disability.

At least 6 families reported with predominantly intestinal phenotype with dysmotility and obstruction +/- short bowel.
Gastrointestinal neuromuscular disease v0.63 FLNA Zornitza Stark edited their review of gene: FLNA: Changed publications: 17357080, 23037936, 33464596, 20871226
Gastrointestinal neuromuscular disease v0.63 FLNA Zornitza Stark Marked gene: FLNA as ready
Gastrointestinal neuromuscular disease v0.63 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.63 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from Periventricular heterotopia in males, seizures in females to Intestinal pseudoobstruction, neuronal, MIM# 300048; Congenital short bowel syndrome, MIM# 300048
Gastrointestinal neuromuscular disease v0.62 FLNA Zornitza Stark Publications for gene: FLNA were set to
Gastrointestinal neuromuscular disease v0.61 FLNA Zornitza Stark reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357080, 23037936, 33464596; Phenotypes: Intestinal pseudoobstruction, neuronal, MIM# 300048, Congenital short bowel syndrome, MIM# 300048; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gastrointestinal neuromuscular disease v0.61 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Gastrointestinal neuromuscular disease v0.61 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.61 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from Waardenburg syndrome w/pigmentary abnormalities to Waardenburg syndrome, type 4A, MIM# 277580
Gastrointestinal neuromuscular disease v0.60 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.60 PDCL3 Zornitza Stark Marked gene: PDCL3 as ready
Gastrointestinal neuromuscular disease v0.60 PDCL3 Zornitza Stark Gene: pdcl3 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.60 PDCL3 Zornitza Stark Classified gene: PDCL3 as Amber List (moderate evidence)
Gastrointestinal neuromuscular disease v0.60 PDCL3 Zornitza Stark Gene: pdcl3 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.59 RET Zornitza Stark Marked gene: RET as ready
Gastrointestinal neuromuscular disease v0.59 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.59 RET Zornitza Stark Phenotypes for gene: RET were changed from {Hirschsprung disease, susceptibility to, 1}, 142623 to Central hypoventilation syndrome, congenital, MIM# 209880; Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Gastrointestinal neuromuscular disease v0.58 RET Zornitza Stark Mode of inheritance for gene: RET was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.57 RET Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880, Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.57 SGO1 Zornitza Stark Marked gene: SGO1 as ready
Gastrointestinal neuromuscular disease v0.57 SGO1 Zornitza Stark Gene: sgo1 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.57 SGO1 Zornitza Stark Phenotypes for gene: SGO1 were changed from Chronic atrial and intestinal dysrhythmia, 616201 to Chronic atrial and intestinal dysrhythmia, MIM# 616201
Gastrointestinal neuromuscular disease v0.56 SGO1 Zornitza Stark Publications for gene: SGO1 were set to
Gastrointestinal neuromuscular disease v0.55 SGO1 Zornitza Stark Classified gene: SGO1 as Amber List (moderate evidence)
Gastrointestinal neuromuscular disease v0.55 SGO1 Zornitza Stark Gene: sgo1 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.54 SGO1 Zornitza Stark Tag founder tag was added to gene: SGO1.
Gastrointestinal neuromuscular disease v0.54 SGO1 Zornitza Stark changed review comment from: Single homozygous missense identified in 3 families, founder effect demonstrated by haplotype analysis. Functional data supports gene-disease association.; to: Single homozygous missense identified in 15 individuals, founder effect demonstrated by haplotype analysis. Functional data supports gene-disease association.
Gastrointestinal neuromuscular disease v0.54 SGO1 Zornitza Stark reviewed gene: SGO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.54 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Gastrointestinal neuromuscular disease v0.54 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.54 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.53 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from Waardenburg syndrome w/pigmentary abnormalities to PCWH syndrome, MIM# 609136
Gastrointestinal neuromuscular disease v0.52 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Gastrointestinal neuromuscular disease v0.51 SOX10 Zornitza Stark reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10762540, 10482261, 15004559; Phenotypes: PCWH syndrome, MIM# 609136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.51 TYMP Zornitza Stark Marked gene: TYMP as ready
Gastrointestinal neuromuscular disease v0.51 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.51 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Gastrointestinal neuromuscular disease v0.50 TYMP Zornitza Stark Publications for gene: TYMP were set to
Gastrointestinal neuromuscular disease v0.49 TYMP Zornitza Stark reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9924029, 14757860; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.49 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Gastrointestinal neuromuscular disease v0.49 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.49 RAD21 Zornitza Stark Phenotypes for gene: RAD21 were changed from Mungan syndrome: Barrett esophagus, megaduodenum, cardiac abnormalities to Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities
Gastrointestinal neuromuscular disease v0.48 RAD21 Zornitza Stark Publications for gene: RAD21 were set to
Gastrointestinal neuromuscular disease v0.47 RAD21 Zornitza Stark reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14638363, 32193685, 25575569; Phenotypes: Mungan syndrome, MIM# 611376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.47 EDN3 Zornitza Stark edited their review of gene: EDN3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.47 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Gastrointestinal neuromuscular disease v0.47 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.47 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome w/pigmentary abnormalities to Waardenburg syndrome, type 4B, MIM# 613265
Gastrointestinal neuromuscular disease v0.46 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.46 CHRM3 Zornitza Stark Marked gene: CHRM3 as ready
Gastrointestinal neuromuscular disease v0.46 CHRM3 Zornitza Stark Gene: chrm3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.46 CHRM3 Zornitza Stark Phenotypes for gene: CHRM3 were changed from Posterior urethral valves & prune belly syndrome to Prune belly syndrome, MIM# 100100; Posterior urethral valves & prune belly syndrome
Gastrointestinal neuromuscular disease v0.45 CHRM3 Zornitza Stark Publications for gene: CHRM3 were set to
Gastrointestinal neuromuscular disease v0.44 CHRM3 Zornitza Stark edited their review of gene: CHRM3: Changed rating: GREEN
Gastrointestinal neuromuscular disease v0.44 CHRM3 Zornitza Stark reviewed gene: CHRM3: Rating: ; Mode of pathogenicity: None; Publications: 22077972, 31441039; Phenotypes: Prune belly syndrome, MIM# 100100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.44 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Gastrointestinal neuromuscular disease v0.44 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.44 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Gastrointestinal neuromuscular disease v0.43 ACTA2 Zornitza Stark Publications for gene: ACTA2 were set to
Gastrointestinal neuromuscular disease v0.42 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.41 ACTA2 Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20734336, 29300374; Phenotypes: Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.41 ACTG2 Zornitza Stark Publications for gene: ACTG2 were set to
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark edited their review of gene: ACTG2: Added comment: More than 20 unrelated families reported.; Changed publications: 24676022, 26647307
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Visceral myopathy, 155310 to Visceral myopathy, 155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Gastrointestinal neuromuscular disease v0.39 ACTG2 Zornitza Stark Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.38 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.38 MYL9 Zornitza Stark Phenotypes for gene: MYL9 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Gastrointestinal neuromuscular disease v0.37 MYL9 Zornitza Stark edited their review of gene: MYL9: Changed phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Gastrointestinal neuromuscular disease v0.37 LMOD1 Zornitza Stark Phenotypes for gene: LMOD1 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
Gastrointestinal neuromuscular disease v0.36 LMOD1 Zornitza Stark reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.36 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.35 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.34 MYH11 Zornitza Stark edited their review of gene: MYH11: Changed phenotypes: Visceral myopathy 2, MIM# 619350, Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark changed review comment from: Three unrelated families and functional data.
Sources: Literature; to: Seven individuals from three unrelated families and functional data.
Sources: Literature
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark Marked gene: LIG3 as ready
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark Classified gene: LIG3 as Green List (high evidence)
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.33 LIG3 Zornitza Stark gene: LIG3 was added
gene: LIG3 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy
Review for gene: LIG3 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Literature
Gastrointestinal neuromuscular disease v0.32 PDCL3 Shannon LeBlanc gene: PDCL3 was added
gene: PDCL3 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: PDCL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCL3 were set to PMID: 32621347
Phenotypes for gene: PDCL3 were set to megacystis-microcolon
Review for gene: PDCL3 was set to AMBER
Added comment: Single publication (PMID 32621347): one family with two affected fetuses - one with megacystis and microcolon, and the other with megacystisis and bilateral diaphragmatic hernia (prune-belly phenotype). Compound het LOF variants in PDCL3 (one frameshift and one missense). Complete absence of PDLC3 expression demonstrated in one of the affected fetuses.

No homozygous LOF PDCL3 variants in gnomAD.
PCDL3 negatively modulates actin folding and is strongly expressed in smooth muscle of bladder and colon.
Sources: Literature
Gastrointestinal neuromuscular disease v0.32 MYL9 Zornitza Stark Publications for gene: MYL9 were set to 29453416
Gastrointestinal neuromuscular disease v0.31 MYL9 Zornitza Stark Classified gene: MYL9 as Amber List (moderate evidence)
Gastrointestinal neuromuscular disease v0.31 MYL9 Zornitza Stark Gene: myl9 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.30 MYL9 Zornitza Stark reviewed gene: MYL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.30 MYLK Zornitza Stark Marked gene: MYLK as ready
Gastrointestinal neuromuscular disease v0.30 MYLK Zornitza Stark Gene: mylk has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.30 MYLK Zornitza Stark Publications for gene: MYLK were set to
Gastrointestinal neuromuscular disease v0.29 MYLK Zornitza Stark Classified gene: MYLK as Amber List (moderate evidence)
Gastrointestinal neuromuscular disease v0.29 MYLK Zornitza Stark Gene: mylk has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.28 MYLK Ain Roesley reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28602422; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.28 POLG2 Bryony Thompson Marked gene: POLG2 as ready
Gastrointestinal neuromuscular disease v0.28 POLG2 Bryony Thompson Gene: polg2 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.28 POLG2 Bryony Thompson gene: POLG2 was added
gene: POLG2 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLG2 were set to 21555342; 27775730
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131
Review for gene: POLG2 was set to RED
Added comment: 3 unrelated cases have been reported with gastrointestinal symptoms and 3 different heterozygous missense (L153V, R369G, S423Y). All 3 missense are too common in gnomAD v2.1 for a dominant disease and biochemical assays demonstrated normal function for all expect R369G variants had reduced stimulation of processivity and decreased affinity for the catalytic subunit.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.27 L1CAM Bryony Thompson changed review comment from: At least 6 male cases in 5 unrelated families reported with hydrocephalus with Hirchsprung disease.
Sources: Expert list; to: At least 6 male cases in 5 unrelated families reported with hydrocephalus and Hirchsprung disease/intestinal pseudo-obstruction.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.27 L1CAM Bryony Thompson Marked gene: L1CAM as ready
Gastrointestinal neuromuscular disease v0.27 L1CAM Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.27 L1CAM Bryony Thompson Classified gene: L1CAM as Green List (high evidence)
Gastrointestinal neuromuscular disease v0.27 L1CAM Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.26 L1CAM Bryony Thompson gene: L1CAM was added
gene: L1CAM was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to 9279760; 11857550; 15148591; 15368500; 22354677
Phenotypes for gene: L1CAM were set to Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000
Review for gene: L1CAM was set to GREEN
Added comment: At least 6 male cases in 5 unrelated families reported with hydrocephalus with Hirchsprung disease.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.25 TMEM70 Bryony Thompson edited their review of gene: TMEM70: Changed rating: AMBER
Gastrointestinal neuromuscular disease v0.25 TMEM70 Bryony Thompson gene: TMEM70 was added
gene: TMEM70 was added to Gastrointestinal neuromuscular disease. Sources: NHS GMS
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 21147908
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Review for gene: TMEM70 was set to RED
Added comment: Intestinal pseudo-obstruction reported in one case and delayed gastric emptying reported in another case. Gastrointestinal neuromuscular disease does not appear to be a prominent feature of the condition.
Sources: NHS GMS
Gastrointestinal neuromuscular disease v0.24 ATRX Bryony Thompson Marked gene: ATRX as ready
Gastrointestinal neuromuscular disease v0.24 ATRX Bryony Thompson Gene: atrx has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.24 ATRX Bryony Thompson Classified gene: ATRX as Green List (high evidence)
Gastrointestinal neuromuscular disease v0.24 ATRX Bryony Thompson Gene: atrx has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.23 ATRX Bryony Thompson gene: ATRX was added
gene: ATRX was added to Gastrointestinal neuromuscular disease. Sources: NHS GMS
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ATRX were set to 16688741
Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome MIM#301040
Review for gene: ATRX was set to GREEN
Added comment: Gastrointestinal problems can be a prominent feature of the condition.
Sources: NHS GMS
Gastrointestinal neuromuscular disease v0.22 LMOD1 Bryony Thompson Marked gene: LMOD1 as ready
Gastrointestinal neuromuscular disease v0.22 LMOD1 Bryony Thompson Gene: lmod1 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.22 LMOD1 Bryony Thompson reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis microcolon intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.22 MYL9 Bryony Thompson Marked gene: MYL9 as ready
Gastrointestinal neuromuscular disease v0.22 MYL9 Bryony Thompson Gene: myl9 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.22 MYL9 Bryony Thompson gene: MYL9 was added
gene: MYL9 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL9 were set to 29453416
Phenotypes for gene: MYL9 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Review for gene: MYL9 was set to RED
Added comment: Single consanguineous family reported with a homozygous deletion including the last exon of the gene. No functional evidence.
Sources: Literature
Gastrointestinal neuromuscular disease v0.21 RET Bryony Thompson Classified gene: RET as Green List (high evidence)
Gastrointestinal neuromuscular disease v0.21 RET Bryony Thompson Gene: ret has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.20 SEMA3D Bryony Thompson Marked gene: SEMA3D as ready
Gastrointestinal neuromuscular disease v0.20 SEMA3D Bryony Thompson Gene: sema3d has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.20 SEMA3D Bryony Thompson gene: SEMA3D was added
gene: SEMA3D was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: SEMA3D was set to Unknown
Publications for gene: SEMA3D were set to 28334784; 25839327
Phenotypes for gene: SEMA3D were set to Hirschsprung disease
Review for gene: SEMA3D was set to RED
Added comment: Reported as a common susceptibility loci. No reported evidence for an association with Mendelian disease. Sema3d null heterozygote and homozygote mouse model had normal intestinal innervation.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.19 SEMA3C Bryony Thompson edited their review of gene: SEMA3C: Changed publications: 25839327, 31240788
Gastrointestinal neuromuscular disease v0.19 SEMA3C Bryony Thompson Marked gene: SEMA3C as ready
Gastrointestinal neuromuscular disease v0.19 SEMA3C Bryony Thompson Gene: sema3c has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.19 SEMA3C Bryony Thompson gene: SEMA3C was added
gene: SEMA3C was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: SEMA3C was set to Unknown
Publications for gene: SEMA3C were set to 25839327
Phenotypes for gene: SEMA3C were set to Hirschsprung disease
Review for gene: SEMA3C was set to RED
Added comment: Common susceptibility loci for Hirschsprung disease. No reported evidence that it is associated with Mendelian disease.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.18 NRG3 Bryony Thompson Marked gene: NRG3 as ready
Gastrointestinal neuromuscular disease v0.18 NRG3 Bryony Thompson Gene: nrg3 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.18 NRG3 Bryony Thompson gene: NRG3 was added
gene: NRG3 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: NRG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRG3 were set to 23315268
Phenotypes for gene: NRG3 were set to Hirschsprung disease
Review for gene: NRG3 was set to RED
Added comment: Single Chinese mother and son reported, and some sporadic cases that appear to have recurrent variants that may be polymorphisms. No functional evidence.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.17 NRG1 Bryony Thompson changed review comment from: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease.
Sources: Expert list; to: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene (at least one de novo) and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.17 NRG1 Bryony Thompson Marked gene: NRG1 as ready
Gastrointestinal neuromuscular disease v0.17 NRG1 Bryony Thompson Gene: nrg1 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.17 NRG1 Bryony Thompson Classified gene: NRG1 as Amber List (moderate evidence)
Gastrointestinal neuromuscular disease v0.17 NRG1 Bryony Thompson Gene: nrg1 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.16 NRG1 Bryony Thompson gene: NRG1 was added
gene: NRG1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRG1 were set to 22574178; 21706185; 28190554
Phenotypes for gene: NRG1 were set to Hirschsprung disease
Review for gene: NRG1 was set to AMBER
Added comment: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.15 ECE1 Bryony Thompson Marked gene: ECE1 as ready
Gastrointestinal neuromuscular disease v0.15 ECE1 Bryony Thompson Gene: ece1 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.15 ECE1 Bryony Thompson gene: ECE1 was added
gene: ECE1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ECE1 were set to 9915973
Phenotypes for gene: ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870
Review for gene: ECE1 was set to RED
Added comment: A single case reported with Arg742Cys. Although this variant causes a loss of function in in vitro assays the NFE AF is higher than expected for a dominant disorder (0.0004, 50/127,302 alleles).
Sources: Expert list
Gastrointestinal neuromuscular disease v0.14 GDNF Bryony Thompson changed review comment from: Mouse models have a gastrointestinal neuromuscular phenotype, however there is no evidence that variants in GDNF cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans.
Sources: Expert list; to: Mouse models have a gastrointestinal neuromuscular phenotype, however there is limited evidence that variants in GDNF cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.14 NRTN Bryony Thompson Marked gene: NRTN as ready
Gastrointestinal neuromuscular disease v0.14 NRTN Bryony Thompson Gene: nrtn has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.14 NRTN Bryony Thompson gene: NRTN was added
gene: NRTN was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: NRTN was set to Unknown
Publications for gene: NRTN were set to 21206993; 10069332; 9700200
Phenotypes for gene: NRTN were set to Hirschsprung disease
Review for gene: NRTN was set to RED
Added comment: A mouse model has a gastrointestinal neuromuscular phenotype, however there is limited evidence that variants in NRTN cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.13 GDNF Bryony Thompson edited their review of gene: GDNF: Changed publications: 18276829, 8896568, 8657308, 11973622, 21206993
Gastrointestinal neuromuscular disease v0.13 GDNF Bryony Thompson Marked gene: GDNF as ready
Gastrointestinal neuromuscular disease v0.13 GDNF Bryony Thompson Gene: gdnf has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.13 GDNF Bryony Thompson gene: GDNF was added
gene: GDNF was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDNF were set to 18276829; 8896568; 8657308; 11973622
Phenotypes for gene: GDNF were set to {Hirschsprung disease, susceptibility to, 3} MIM#613711
Review for gene: GDNF was set to RED
Added comment: Mouse models have a gastrointestinal neuromuscular phenotype, however there is no evidence that variants in GDNF cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.12 MPV17 Bryony Thompson Marked gene: MPV17 as ready
Gastrointestinal neuromuscular disease v0.12 MPV17 Bryony Thompson Gene: mpv17 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.12 MPV17 Bryony Thompson Classified gene: MPV17 as Green List (high evidence)
Gastrointestinal neuromuscular disease v0.12 MPV17 Bryony Thompson Gene: mpv17 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.11 MPV17 Bryony Thompson gene: MPV17 was added
gene: MPV17 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 22964873; 28673863; 22593919
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
Review for gene: MPV17 was set to GREEN
Added comment: Gastrointestinal features including dysmotility have been reported in association biallelic variants in this gene in about 30% of cases with this condition, according to GeneReviews.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.10 RRM2B Bryony Thompson Marked gene: RRM2B as ready
Gastrointestinal neuromuscular disease v0.10 RRM2B Bryony Thompson Gene: rrm2b has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.10 RRM2B Bryony Thompson edited their review of gene: RRM2B: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.10 RRM2B Bryony Thompson Mode of inheritance for gene: RRM2B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.9 RRM2B Bryony Thompson Classified gene: RRM2B as Green List (high evidence)
Gastrointestinal neuromuscular disease v0.9 RRM2B Bryony Thompson Gene: rrm2b has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.8 RRM2B Bryony Thompson gene: RRM2B was added
gene: RRM2B was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 19667227; 23107649
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077
Review for gene: RRM2B was set to GREEN
Added comment: Gastrointestinal disturbances have been reported in 6/31 cases with adult onset cases with biallelic and monoallelic variants.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.7 OPA1 Bryony Thompson Marked gene: OPA1 as ready
Gastrointestinal neuromuscular disease v0.7 OPA1 Bryony Thompson Gene: opa1 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.7 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OPA1 were set to 30395865
Phenotypes for gene: OPA1 were set to gastrointestinal pseudo-obstruction
Review for gene: OPA1 was set to RED
Added comment: Cannot find evidence that gastrointestinal pseudo-obstruction or dysmotility have been reported in association with this gene. There is a single report of an OPA1 heterozygous variant in a case with suggestive MNGIE, but there were no obvious gastrointestinal features identified.
Sources: Expert list
Gastrointestinal neuromuscular disease v0.6 Bryony Thompson Panel name changed from Visceral Myopathy to Gastrointestinal neuromuscular disease
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900 to Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.4 MYH11 Zornitza Stark Publications for gene: MYH11 were set to 31044419; 31427716; 25407000
Gastrointestinal neuromuscular disease v0.3 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.2 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 31944481; Phenotypes: Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Gastrointestinal neuromuscular disease v0.1 Bryony Thompson Panel name changed from Visceral Myopathy_RMH to Visceral Myopathy
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Gastrointestinal neuromuscular disease v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Gastrointestinal neuromuscular disease v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SOX10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX10 were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 SGO1 Bryony Thompson gene: SGO1 was added
gene: SGO1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201
Gastrointestinal neuromuscular disease v0.0 RET Bryony Thompson gene: RET was added
gene: RET was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RET were set to {Hirschsprung disease, susceptibility to, 1}, 142623
Gastrointestinal neuromuscular disease v0.0 RAD21 Bryony Thompson gene: RAD21 was added
gene: RAD21 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD21 were set to Mungan syndrome: Barrett esophagus, megaduodenum, cardiac abnormalities
Gastrointestinal neuromuscular disease v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
Gastrointestinal neuromuscular disease v0.0 MYLK Bryony Thompson gene: MYLK was added
gene: MYLK was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYLK were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210
Gastrointestinal neuromuscular disease v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH11 were set to 31044419; 31427716; 25407000
Phenotypes for gene: MYH11 were set to Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900
Gastrointestinal neuromuscular disease v0.0 LMOD1 Bryony Thompson gene: LMOD1 was added
gene: LMOD1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD1 were set to 28292896
Phenotypes for gene: LMOD1 were set to Megacystis microcolon intestinal hypoperistalsis syndrome
Gastrointestinal neuromuscular disease v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Periventricular heterotopia in males, seizures in females
Gastrointestinal neuromuscular disease v0.0 EDNRB Bryony Thompson gene: EDNRB was added
gene: EDNRB was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 EDN3 Bryony Thompson gene: EDN3 was added
gene: EDN3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDN3 were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 CHRM3 Bryony Thompson gene: CHRM3 was added
gene: CHRM3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRM3 were set to Posterior urethral valves & prune belly syndrome
Gastrointestinal neuromuscular disease v0.0 ACTG2 Bryony Thompson gene: ACTG2 was added
gene: ACTG2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG2 were set to Visceral myopathy, 155310
Gastrointestinal neuromuscular disease v0.0 ACTA2 Bryony Thompson gene: ACTA2 was added
gene: ACTA2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Gastrointestinal neuromuscular disease v0.0 Bryony Thompson Added panel Visceral Myopathy_RMH