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Gastrointestinal neuromuscular disorders v1.23 ACTA2 Arina Puzriakova Phenotypes for gene: ACTA2 were changed from Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 to Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Gastrointestinal neuromuscular disorders v1.22 ACTA2 Arina Puzriakova Classified gene: ACTA2 as Green List (high evidence)
Gastrointestinal neuromuscular disorders v1.22 ACTA2 Arina Puzriakova Gene: acta2 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disorders v1.21 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Gastrointestinal neuromuscular disorders v1.19 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source Expert Review Red was added to STR: DMPK_CTG.
Source NHS GMS was added to STR: DMPK_CTG.
Gastrointestinal neuromuscular disorders v1.18 IDS Donna Bernstein reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15797184; Phenotypes: Elevated urine glycosamino glycans, heparan and dermatan sulphate due to deficient iduronate 2-sulphatase activity, short stature, dysostosis multiplex, wide spaced teeth: kyphosis, hyrdocephalus, hearing loss, sleep apnea, facial coarsening, hernia, macrocephaly, macroglossia, joint stffness, hepatosplenomegaly, airway obstruction, seizures, cardiovascular valve disease, may have normal intelligence or CNS involvement; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gastrointestinal neuromuscular disorders v1.18 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Gastrointestinal neuromuscular disorders v1.17 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Gastrointestinal neuromuscular disorders v1.16 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Gastrointestinal neuromuscular disorders v1.16 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Gastrointestinal neuromuscular disorders v1.15 DMPK Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: DMPK.
Gastrointestinal neuromuscular disorders v1.15 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review
Mode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD21 were set to 14638363; 32193685; 25575569
Phenotypes for gene: RAD21 were set to Mungan syndrome, MIM# 611376
Review for gene: RAD21 was set to GREEN
Added comment: Mono-allelic variants are associated with CdL but bi-allelic variants are associated with Mungan syndrome, which includes pseudo-obstruction.
Sources: Expert Review
Gastrointestinal neuromuscular disorders v1.15 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 9279760, 11857550, 15148591, 15368500, 22354677; Phenotypes: Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gastrointestinal neuromuscular disorders v1.15 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTA2 were set to 20734336; 29300374
Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
Review for gene: ACTA2 was set to GREEN
gene: ACTA2 was marked as current diagnostic
Added comment: Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder.

More than 40 unrelated individuals reported, missense at p.Arg179 position.
Sources: Expert Review
Gastrointestinal neuromuscular disorders v1.15 FLNA Arina Puzriakova Phenotypes for gene: FLNA were changed from Intestinal pseudoobstruction, neuronal 300048; Congenital short bowel syndrome 300048 to Congenital short bowel syndrome, OMIM:300048; Intestinal pseudoobstruction, neuronal, OMIM:300048
Gastrointestinal neuromuscular disorders v1.14 LIG3 Ivone Leong Classified gene: LIG3 as Green List (high evidence)
Gastrointestinal neuromuscular disorders v1.14 LIG3 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green as per my previous review.
Gastrointestinal neuromuscular disorders v1.14 LIG3 Ivone Leong Gene: lig3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disorders v1.13 LIG3 Ivone Leong Tag Q2_21_rating was removed from gene: LIG3.
Gastrointestinal neuromuscular disorders v1.13 LIG3 Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100
Gastrointestinal neuromuscular disorders v1.13 LIG3 Ivone Leong gene: LIG3 was added
gene: LIG3 was added to Gastrointestinal neuromuscular disorders. Sources: Literature,Expert Review Amber
Q2_21_rating tags were added to gene: LIG3.
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; mitochondrial DNA depletion
Gastrointestinal neuromuscular disorders v1.12 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Gastrointestinal neuromuscular disorders v1.12 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to Gastrointestinal neuromuscular disorders. Sources: Expert list
Mode of inheritance for gene: MYH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH11 were set to 31944481; 29575632
Phenotypes for gene: MYH11 were set to Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Review for gene: MYH11 was set to GREEN
gene: MYH11 was marked as current diagnostic
Added comment: Heterozygous dominant negative MYH11 pathogenic variants have been associated with thoracic aortic aneurysm and dissection while biallelic null alleles have been associated with megacystis microcolon intestinal hypoperistalsis syndrome. Recent report of two families with heterozygous protein‐elongating MYH11 variants affecting the SM2 isoforms of MYH11 as a cause for severe gastrointestinal dysmotility. The authors hypothesise that the mechanistic pathogenesis of this disease, dominant hypercontractile loss‐of‐function, is distinct from those implicated in other diseases involving MYH11 dysfunction.
Sources: Expert list
Gastrointestinal neuromuscular disorders v1.11 Ellen McDonagh Panel types changed to Rare Disease 100K
Gastrointestinal neuromuscular disorders v1.9 DMPK_CTG Louise Daugherty Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Gastrointestinal neuromuscular disorders v1.8 Ellen McDonagh Panel name changed from Neonatal and familial gastrointestinal neuromuscular disorders to Gastrointestinal neuromuscular disorders
List of related panels changed from Infantile pseudo-obstruction; Early onset or familial intestinal pseudo obstruction to Neonatal and familial gastrointestinal neuromuscular disorders; Infantile pseudo-obstruction; Early onset or familial intestinal pseudo obstruction
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Gastrointestinal neuromuscular disorders DMPK Ellen McDonagh Added STR to panel
Gastrointestinal neuromuscular disorders DMD Ellen McDonagh edited their review of DMD
Gastrointestinal neuromuscular disorders CLMP Helen Brittain marked CLMP as ready
Gastrointestinal neuromuscular disorders CLMP Helen Brittain classified CLMP as Green List (high evidence)
Gastrointestinal neuromuscular disorders CLMP Helen Brittain Added gene to panel
Gastrointestinal neuromuscular disorders SAMD9 Helen Brittain marked SAMD9 as ready
Gastrointestinal neuromuscular disorders SAMD9 Helen Brittain classified SAMD9 as green
Gastrointestinal neuromuscular disorders SAMD9 Helen Brittain added SAMD9 to panel
Gastrointestinal neuromuscular disorders SAMD9 Helen Brittain reviewed SAMD9
Gastrointestinal neuromuscular disorders PTRF Louise Daugherty commented on PTRF
Gastrointestinal neuromuscular disorders SGOL1 Louise Daugherty commented on SGOL1
Gastrointestinal neuromuscular disorders Ellen McDonagh promoted panel to version 1
Gastrointestinal neuromuscular disorders SCN11A Richard Scott classified SCN11A as green
Gastrointestinal neuromuscular disorders SCN11A Richard Scott commented on SCN11A
Gastrointestinal neuromuscular disorders RRM2B Richard Scott classified RRM2B as green
Gastrointestinal neuromuscular disorders RRM2B Richard Scott commented on RRM2B
Gastrointestinal neuromuscular disorders RET Richard Scott classified RET as green
Gastrointestinal neuromuscular disorders RET Richard Scott commented on RET
Gastrointestinal neuromuscular disorders L1CAM Richard Scott classified L1CAM as amber
Gastrointestinal neuromuscular disorders L1CAM Richard Scott commented on L1CAM
Gastrointestinal neuromuscular disorders EVC2 Richard Scott classified EVC2 as red
Gastrointestinal neuromuscular disorders EVC2 Richard Scott commented on EVC2
Gastrointestinal neuromuscular disorders EVC2 Richard Scott classified EVC2 as green
Gastrointestinal neuromuscular disorders DMD Richard Scott classified DMD as green
Gastrointestinal neuromuscular disorders DMD Richard Scott commented on DMD
Gastrointestinal neuromuscular disorders PTEN Ellen McDonagh edited their review of PTEN
Gastrointestinal neuromuscular disorders PTEN Ellen McDonagh classified PTEN as amber
Gastrointestinal neuromuscular disorders PTEN Ellen McDonagh commented on PTEN
Gastrointestinal neuromuscular disorders SOX10 Ellen McDonagh edited their review of SOX10
Gastrointestinal neuromuscular disorders SOX10 Ellen McDonagh classified SOX10 as green
Gastrointestinal neuromuscular disorders SOX10 Ellen McDonagh commented on SOX10
Gastrointestinal neuromuscular disorders SMO Ellen McDonagh edited their review of SMO
Gastrointestinal neuromuscular disorders SMO Ellen McDonagh classified SMO as red
Gastrointestinal neuromuscular disorders SMO Ellen McDonagh commented on SMO
Gastrointestinal neuromuscular disorders SGOL1 Ellen McDonagh edited their review of SGOL1
Gastrointestinal neuromuscular disorders SGOL1 Ellen McDonagh classified SGOL1 as red
Gastrointestinal neuromuscular disorders SGOL1 Ellen McDonagh commented on SGOL1
Gastrointestinal neuromuscular disorders SCN11A Ellen McDonagh edited their review of SCN11A
Gastrointestinal neuromuscular disorders SCN11A Ellen McDonagh classified SCN11A as amber
Gastrointestinal neuromuscular disorders SCN11A Ellen McDonagh classified SCN11A as red
Gastrointestinal neuromuscular disorders SCN11A Ellen McDonagh commented on SCN11A
Gastrointestinal neuromuscular disorders MT-TK Ellen McDonagh classified MT-TK as red
Gastrointestinal neuromuscular disorders MT-TK Ellen McDonagh commented on MT-TK
Gastrointestinal neuromuscular disorders L1CAM Ellen McDonagh edited their review of L1CAM
Gastrointestinal neuromuscular disorders L1CAM Ellen McDonagh classified L1CAM as amber
Gastrointestinal neuromuscular disorders L1CAM Ellen McDonagh commented on L1CAM
Gastrointestinal neuromuscular disorders EVC2 Ellen McDonagh edited their review of EVC2
Gastrointestinal neuromuscular disorders EVC2 Ellen McDonagh classified EVC2 as amber
Gastrointestinal neuromuscular disorders EVC2 Ellen McDonagh commented on EVC2
Gastrointestinal neuromuscular disorders DMD Ellen McDonagh edited their review of DMD
Gastrointestinal neuromuscular disorders DMD Ellen McDonagh classified DMD as amber
Gastrointestinal neuromuscular disorders DMD Ellen McDonagh commented on DMD
Gastrointestinal neuromuscular disorders ACTG2 Ellen McDonagh edited their review of ACTG2
Gastrointestinal neuromuscular disorders ACTG2 Ellen McDonagh classified ACTG2 as green
Gastrointestinal neuromuscular disorders ACTG2 Ellen McDonagh commented on ACTG2
Gastrointestinal neuromuscular disorders RET Ellen McDonagh edited their review of RET
Gastrointestinal neuromuscular disorders GDNF Ellen McDonagh edited their review of GDNF
Gastrointestinal neuromuscular disorders GDNF Ellen McDonagh edited their review of GDNF
Gastrointestinal neuromuscular disorders GDNF Ellen McDonagh classified GDNF as amber
Gastrointestinal neuromuscular disorders GDNF Ellen McDonagh commented on GDNF
Gastrointestinal neuromuscular disorders FLNA Ellen McDonagh edited their review of FLNA
Gastrointestinal neuromuscular disorders FLNA Ellen McDonagh classified FLNA as green
Gastrointestinal neuromuscular disorders FLNA Ellen McDonagh classified FLNA as amber
Gastrointestinal neuromuscular disorders FLNA Ellen McDonagh commented on FLNA
Gastrointestinal neuromuscular disorders TYMP Ellen McDonagh edited their review of TYMP
Gastrointestinal neuromuscular disorders TYMP Ellen McDonagh classified TYMP as green
Gastrointestinal neuromuscular disorders TYMP Ellen McDonagh commented on TYMP
Gastrointestinal neuromuscular disorders TMEM70 Ellen McDonagh edited their review of TMEM70
Gastrointestinal neuromuscular disorders TMEM70 Ellen McDonagh classified TMEM70 as green
Gastrointestinal neuromuscular disorders TMEM70 Ellen McDonagh commented on TMEM70
Gastrointestinal neuromuscular disorders RRM2B Ellen McDonagh edited their review of RRM2B
Gastrointestinal neuromuscular disorders RRM2B Ellen McDonagh classified RRM2B as amber
Gastrointestinal neuromuscular disorders RRM2B Ellen McDonagh commented on RRM2B
Gastrointestinal neuromuscular disorders RET Ellen McDonagh classified RET as amber
Gastrointestinal neuromuscular disorders RET Ellen McDonagh reviewed RET
Gastrointestinal neuromuscular disorders POLG Ellen McDonagh edited their review of POLG
Gastrointestinal neuromuscular disorders POLG Ellen McDonagh classified POLG as green
Gastrointestinal neuromuscular disorders POLG Ellen McDonagh commented on POLG
Gastrointestinal neuromuscular disorders IDS Ellen McDonagh edited their review of IDS
Gastrointestinal neuromuscular disorders IDS Ellen McDonagh classified IDS as green
Gastrointestinal neuromuscular disorders IDS Ellen McDonagh commented on IDS
Gastrointestinal neuromuscular disorders DMPK Ellen McDonagh edited their review of DMPK
Gastrointestinal neuromuscular disorders DMPK Ellen McDonagh classified DMPK as red
Gastrointestinal neuromuscular disorders DMPK Ellen McDonagh commented on DMPK
Gastrointestinal neuromuscular disorders DES Ellen McDonagh edited their review of DES
Gastrointestinal neuromuscular disorders DES Ellen McDonagh classified DES as green
Gastrointestinal neuromuscular disorders DES Ellen McDonagh commented on DES
Gastrointestinal neuromuscular disorders ATRX Ellen McDonagh edited their review of ATRX
Gastrointestinal neuromuscular disorders ATRX Ellen McDonagh classified ATRX as green
Gastrointestinal neuromuscular disorders ATRX Ellen McDonagh commented on ATRX
Gastrointestinal neuromuscular disorders TTC7A Ellen McDonagh classified TTC7A as red
Gastrointestinal neuromuscular disorders TTC7A Ellen McDonagh commented on TTC7A
Gastrointestinal neuromuscular disorders PTRF Ellen McDonagh classified PTRF as red
Gastrointestinal neuromuscular disorders PTRF Ellen McDonagh commented on PTRF
Gastrointestinal neuromuscular disorders COG7 Ellen McDonagh classified COG7 as red
Gastrointestinal neuromuscular disorders COG7 Ellen McDonagh commented on COG7
Gastrointestinal neuromuscular disorders PTEN Neil shah reviewed PTEN
Gastrointestinal neuromuscular disorders SOX10 Neil shah reviewed SOX10
Gastrointestinal neuromuscular disorders SMO Neil shah reviewed SMO
Gastrointestinal neuromuscular disorders SGOL1 Neil shah reviewed SGOL1
Gastrointestinal neuromuscular disorders SCN11A Neil shah reviewed SCN11A
Gastrointestinal neuromuscular disorders MT-TK Neil shah reviewed MT-TK
Gastrointestinal neuromuscular disorders L1CAM Neil shah reviewed L1CAM
Gastrointestinal neuromuscular disorders EVC2 Neil shah reviewed EVC2
Gastrointestinal neuromuscular disorders DMD Neil shah reviewed DMD
Gastrointestinal neuromuscular disorders ACTG2 Neil shah reviewed ACTG2
Gastrointestinal neuromuscular disorders TTC7A Neil shah reviewed TTC7A
Gastrointestinal neuromuscular disorders GDNF Neil shah reviewed GDNF
Gastrointestinal neuromuscular disorders FLNA Neil shah reviewed FLNA
Gastrointestinal neuromuscular disorders TYMP Neil shah reviewed TYMP
Gastrointestinal neuromuscular disorders TMEM70 Neil shah reviewed TMEM70
Gastrointestinal neuromuscular disorders RRM2B Neil shah reviewed RRM2B
Gastrointestinal neuromuscular disorders RET Neil shah reviewed RET
Gastrointestinal neuromuscular disorders PTRF Neil shah reviewed PTRF
Gastrointestinal neuromuscular disorders POLG Neil shah reviewed POLG
Gastrointestinal neuromuscular disorders IDS Neil shah reviewed IDS
Gastrointestinal neuromuscular disorders DMPK Neil shah reviewed DMPK
Gastrointestinal neuromuscular disorders DES Neil shah reviewed DES
Gastrointestinal neuromuscular disorders COG7 Neil shah reviewed COG7
Gastrointestinal neuromuscular disorders ATRX Neil shah reviewed ATRX
Gastrointestinal neuromuscular disorders EVC2 Sarah Leigh added EVC2 to panel
Gastrointestinal neuromuscular disorders EVC2 Sarah Leigh reviewed EVC2
Gastrointestinal neuromuscular disorders SGOL1 Sarah Leigh added SGOL1 to panel
Gastrointestinal neuromuscular disorders SGOL1 Sarah Leigh reviewed SGOL1
Gastrointestinal neuromuscular disorders DMD Sarah Leigh added DMD to panel
Gastrointestinal neuromuscular disorders DMD Sarah Leigh reviewed DMD
Gastrointestinal neuromuscular disorders MT-TK Sarah Leigh added MT-TK to panel
Gastrointestinal neuromuscular disorders MT-TK Sarah Leigh reviewed MT-TK