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Paediatric pseudo-obstruction syndrome v1.3 MYL9 Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence)
Paediatric pseudo-obstruction syndrome v1.3 MYL9 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to rate this gene as Green at the next GMS panel update.
Paediatric pseudo-obstruction syndrome v1.3 MYL9 Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence).
Paediatric pseudo-obstruction syndrome v1.2 MYL9 Arina Puzriakova reviewed gene: MYL9: Rating: ; Mode of pathogenicity: None; Publications: 29453416, 33031641, 32621347, 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v1.2 MYL9 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MYL9.
Paediatric pseudo-obstruction syndrome v1.2 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 27481187; 31848803; 33031641; 33729000
Paediatric pseudo-obstruction syndrome v1.1 Catherine Snow Panel version 1.0 has been signed off on 2023-03-22
Paediatric pseudo-obstruction syndrome v1.0 Catherine Snow promoted panel to version 1.0
Paediatric pseudo-obstruction syndrome v0.219 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Paediatric pseudo-obstruction syndrome v0.218 FLNA Achchuthan Shanmugasundram Publications for gene: FLNA were set to 17357080; 20871226; 23873601; 26059841; 31848803; 33729000
Paediatric pseudo-obstruction syndrome v0.217 SEMA3F Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SEMA3F.
Paediatric pseudo-obstruction syndrome v0.217 PROKR1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PROKR1.
Paediatric pseudo-obstruction syndrome v0.217 PROK1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PROK1.
Paediatric pseudo-obstruction syndrome v0.217 Achchuthan Shanmugasundram Panel status changed from internal to public
Paediatric pseudo-obstruction syndrome v0.216 ZEB2 Achchuthan Shanmugasundram commented on gene: ZEB2: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 TYMP Achchuthan Shanmugasundram commented on gene: TYMP: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 TWNK Achchuthan Shanmugasundram commented on gene: TWNK: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 TTC7A Achchuthan Shanmugasundram commented on gene: TTC7A: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 TPM3 Achchuthan Shanmugasundram commented on gene: TPM3: The rating of this gene has been updated to Red and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 TK2 Achchuthan Shanmugasundram commented on gene: TK2: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SURF1 Achchuthan Shanmugasundram commented on gene: SURF1: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SUCLG1 Achchuthan Shanmugasundram commented on gene: SUCLG1: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SUCLA2 Achchuthan Shanmugasundram commented on gene: SUCLA2: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SOX10 Achchuthan Shanmugasundram commented on gene: SOX10: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SGO1 Achchuthan Shanmugasundram commented on gene: SGO1: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SEMA3F Achchuthan Shanmugasundram commented on gene: SEMA3F: The rating of this gene has been updated to Red and the mode of inheritance set to 'Unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SDHA Achchuthan Shanmugasundram commented on gene: SDHA: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SCN10A Achchuthan Shanmugasundram commented on gene: SCN10A: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 RRM2B Achchuthan Shanmugasundram commented on gene: RRM2B: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 RET Achchuthan Shanmugasundram commented on gene: RET: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 RAD21 Achchuthan Shanmugasundram commented on gene: RAD21: The rating of this gene has been updated to Amber and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 PROKR2 Achchuthan Shanmugasundram commented on gene: PROKR2: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 PROKR1 Achchuthan Shanmugasundram commented on gene: PROKR1: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 PROK1 Achchuthan Shanmugasundram commented on gene: PROK1: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 POLG Achchuthan Shanmugasundram commented on gene: POLG: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 PHOX2B Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 PDCL3 Achchuthan Shanmugasundram commented on gene: PDCL3: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 NRTN Achchuthan Shanmugasundram commented on gene: NRTN: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 NKX2-1 Achchuthan Shanmugasundram commented on gene: NKX2-1: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 NDUFS1 Achchuthan Shanmugasundram commented on gene: NDUFS1: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 MYLK Achchuthan Shanmugasundram commented on gene: MYLK: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 MYL9 Achchuthan Shanmugasundram commented on gene: MYL9: The rating of this gene has been updated to Amber and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 MYH11 Achchuthan Shanmugasundram commented on gene: MYH11: The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 MPV17 Achchuthan Shanmugasundram commented on gene: MPV17: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 LMOD1 Achchuthan Shanmugasundram commented on gene: LMOD1: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 LIG3 Achchuthan Shanmugasundram commented on gene: LIG3: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 L1CAM Achchuthan Shanmugasundram commented on gene: L1CAM: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 KIF26A Achchuthan Shanmugasundram commented on gene: KIF26A: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 GFRA1 Achchuthan Shanmugasundram commented on gene: GFRA1: The rating of this gene has been updated to Amber and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 GDNF Achchuthan Shanmugasundram commented on gene: GDNF: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 FOCAD Achchuthan Shanmugasundram commented on gene: FOCAD: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 FLNA Achchuthan Shanmugasundram commented on gene: FLNA: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 ERBB3 Achchuthan Shanmugasundram commented on gene: ERBB3: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 ERBB2 Achchuthan Shanmugasundram commented on gene: ERBB2: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 EDNRB Achchuthan Shanmugasundram reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 EDN3 Achchuthan Shanmugasundram reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 ECE1 Achchuthan Shanmugasundram reviewed gene: ECE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 DLX2 Achchuthan Shanmugasundram reviewed gene: DLX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 DLX1 Achchuthan Shanmugasundram reviewed gene: DLX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 DGUOK Achchuthan Shanmugasundram reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 DDX3X Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 COX15 Achchuthan Shanmugasundram reviewed gene: COX15: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 COX10 Achchuthan Shanmugasundram reviewed gene: COX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 CHRNE Achchuthan Shanmugasundram reviewed gene: CHRNE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 C17orf107 Achchuthan Shanmugasundram reviewed gene: C17orf107: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 BCS1L Achchuthan Shanmugasundram reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 BCR Achchuthan Shanmugasundram reviewed gene: BCR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 ACTG2 Achchuthan Shanmugasundram reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 ACTA2 Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.215 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease
Paediatric pseudo-obstruction syndrome v0.214 Arina Puzriakova List of related panels changed from to R438
Paediatric pseudo-obstruction syndrome v0.213 PHOX2B Arina Puzriakova Tag STR tag was added to gene: PHOX2B.
Paediatric pseudo-obstruction syndrome v0.213 TPM3 Arina Puzriakova Phenotypes for gene: TPM3 were changed from to Megacolon
Paediatric pseudo-obstruction syndrome v0.212 TPM3 Arina Puzriakova Mode of inheritance for gene: TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.211 SURF1 Arina Puzriakova Mode of inheritance for gene: SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.210 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011
Paediatric pseudo-obstruction syndrome v0.209 SDHA Arina Puzriakova Mode of inheritance for gene: SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.208 SCN10A Arina Puzriakova Phenotypes for gene: SCN10A were changed from to Colon sensory neurons activation
Paediatric pseudo-obstruction syndrome v0.207 SCN10A Arina Puzriakova Mode of inheritance for gene: SCN10A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.206 NRTN Arina Puzriakova Publications for gene: NRTN were set to
Paediatric pseudo-obstruction syndrome v0.205 NRTN Arina Puzriakova Phenotypes for gene: NRTN were changed from to susceptibility to Hirschsprung disease
Paediatric pseudo-obstruction syndrome v0.204 NRTN Arina Puzriakova Mode of inheritance for gene: NRTN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.203 NKX2-1 Arina Puzriakova Publications for gene: NKX2-1 were set to
Paediatric pseudo-obstruction syndrome v0.202 NKX2-1 Arina Puzriakova Phenotypes for gene: NKX2-1 were changed from to Megacolon, oesophageal atresia
Paediatric pseudo-obstruction syndrome v0.201 NKX2-1 Arina Puzriakova Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.200 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Paediatric pseudo-obstruction syndrome v0.199 NDUFS1 Arina Puzriakova Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.198 KIF26A Arina Puzriakova Phenotypes for gene: KIF26A were changed from to GDNF-Ret in ENS development
Paediatric pseudo-obstruction syndrome v0.197 KIF26A Arina Puzriakova Mode of inheritance for gene: KIF26A was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.196 FOCAD Arina Puzriakova Mode of inheritance for gene: FOCAD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.195 MPV17 Arina Puzriakova Mode of inheritance for gene: MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.194 EDNRB Arina Puzriakova Publications for gene: EDNRB were set to
Paediatric pseudo-obstruction syndrome v0.193 EDNRB Arina Puzriakova Classified gene: EDNRB as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.193 EDNRB Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence to rate this gene as Green. Mouse model of colonic aganglionosis plus >3 unrelated cases supporting gene:disease association (e.g. PMID:20009762, 10528251, 25852447, 16618617).
Paediatric pseudo-obstruction syndrome v0.193 EDNRB Arina Puzriakova Gene: ednrb has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.192 EDNRB Arina Puzriakova Tag monogenic-polygenic tag was added to gene: EDNRB.
Paediatric pseudo-obstruction syndrome v0.192 EDNRB Arina Puzriakova commented on gene: EDNRB
Paediatric pseudo-obstruction syndrome v0.192 EDNRB Arina Puzriakova Mode of inheritance for gene: EDNRB was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.191 EDNRB Arina Puzriakova Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, OMIM:277580; {Hirschsprung disease, susceptibility to, 2}, OMIM:600155; ?ABCD syndrome, OMIM:600501
Paediatric pseudo-obstruction syndrome v0.190 EDN3 Arina Puzriakova Classified gene: EDN3 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.190 EDN3 Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence to rate this gene as Green. >3 unrelated cases of EDN3 variants causing Waardenburg syndrome, type 4 (WS4). Note that WS4 is diagnosed when WS2 is accompanied by Hirschsprung disease. Hirschsprung's disease also occurs in ~16% of patients with congenital central hypoventilation syndrome/CCHS, which is also caused by EDN3 variants.
Paediatric pseudo-obstruction syndrome v0.190 EDN3 Arina Puzriakova Gene: edn3 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.189 EDN3 Arina Puzriakova commented on gene: EDN3
Paediatric pseudo-obstruction syndrome v0.189 EDN3 Arina Puzriakova Tag monogenic-polygenic tag was added to gene: EDN3.
Paediatric pseudo-obstruction syndrome v0.189 EDN3 Arina Puzriakova Mode of inheritance for gene: EDN3 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.188 EDN3 Arina Puzriakova Publications for gene: EDN3 were set to
Paediatric pseudo-obstruction syndrome v0.187 EDN3 Arina Puzriakova Phenotypes for gene: EDN3 were changed from to Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Paediatric pseudo-obstruction syndrome v0.186 ECE1 Arina Puzriakova Publications for gene: ECE1 were set to
Paediatric pseudo-obstruction syndrome v0.185 ECE1 Arina Puzriakova Classified gene: ECE1 as Amber List (moderate evidence)
Paediatric pseudo-obstruction syndrome v0.185 ECE1 Arina Puzriakova Added comment: Comment on list classification: Only a single human patient discovered to date - Hofstra et al. (1999, PMID:9915973) identified heterozygosity an R742C mutation in the ECE1 gene in a patient with skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction (HCAD, MIM:613870). Given mouse model displays distal intestinal aganglionosis (PMID: 9449665; 17131407) have rated Amber but additional human cases are required to meet diagnostic-grade criteria.
Paediatric pseudo-obstruction syndrome v0.185 ECE1 Arina Puzriakova Gene: ece1 has been classified as Amber List (Moderate Evidence).
Paediatric pseudo-obstruction syndrome v0.184 ECE1 Arina Puzriakova Mode of inheritance for gene: ECE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.183 ECE1 Arina Puzriakova Phenotypes for gene: ECE1 were changed from to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870
Paediatric pseudo-obstruction syndrome v0.182 DLX2 Arina Puzriakova Phenotypes for gene: DLX2 were changed from to Abnormal bowel motility in mice
Paediatric pseudo-obstruction syndrome v0.181 DLX2 Arina Puzriakova Publications for gene: DLX2 were set to
Paediatric pseudo-obstruction syndrome v0.180 DLX2 Arina Puzriakova Mode of inheritance for gene: DLX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.179 DLX2 Arina Puzriakova Classified gene: DLX2 as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.179 DLX2 Arina Puzriakova Added comment: Comment on list classification: No human cases with pathogenic DLX2 variants reported to date and therefore this gene should be rated Red.

Mice lacking DLX1 and DLX2 had slower small bowel transit and reduced or absent neurally-mediated contraction complexes, and have reduced vasoactive intestinal peptide (VIP) expression and fewer VIP-lineage neurons in their enteric nervous system. Small bowel motility seemed normal in adult mice lacking only DLX1 (PMID: 32017713).
Paediatric pseudo-obstruction syndrome v0.179 DLX2 Arina Puzriakova Gene: dlx2 has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.178 DLX1 Arina Puzriakova changed review comment from: Comment on list classification: No human cases with pathogenic DLX1 variants reported to date and therefore this gene should be rated Red.

Mice lacking DLX1 and DLX2 had slower small bowel transit and reduced or absent neurally-mediated contraction complexes, and have reduced vasoactive intestinal peptide (VIP) expression and fewer VIP-lineage neurons in their enteric nervous system. Small bowel motility seemed normal in adult mice lacking only DLX1.; to: Comment on list classification: No human cases with pathogenic DLX1 variants reported to date and therefore this gene should be rated Red.

Mice lacking DLX1 and DLX2 had slower small bowel transit and reduced or absent neurally-mediated contraction complexes, and have reduced vasoactive intestinal peptide (VIP) expression and fewer VIP-lineage neurons in their enteric nervous system. Small bowel motility seemed normal in adult mice lacking only DLX1 (PMID: 32017713).
Paediatric pseudo-obstruction syndrome v0.178 DLX1 Arina Puzriakova Classified gene: DLX1 as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.178 DLX1 Arina Puzriakova Added comment: Comment on list classification: No human cases with pathogenic DLX1 variants reported to date and therefore this gene should be rated Red.

Mice lacking DLX1 and DLX2 had slower small bowel transit and reduced or absent neurally-mediated contraction complexes, and have reduced vasoactive intestinal peptide (VIP) expression and fewer VIP-lineage neurons in their enteric nervous system. Small bowel motility seemed normal in adult mice lacking only DLX1.
Paediatric pseudo-obstruction syndrome v0.178 DLX1 Arina Puzriakova Gene: dlx1 has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.177 DLX1 Arina Puzriakova Mode of inheritance for gene: DLX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.176 DLX1 Arina Puzriakova Publications for gene: DLX1 were set to
Paediatric pseudo-obstruction syndrome v0.175 DLX1 Arina Puzriakova Phenotypes for gene: DLX1 were changed from to Abnormal bowel motility in mice
Paediatric pseudo-obstruction syndrome v0.174 DGUOK Arina Puzriakova Classified gene: DGUOK as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.174 DGUOK Arina Puzriakova Added comment: Comment on list classification: Could not find clear evidence linking this gene with intestinal pseudo-obstruction and therefore recommending Red gene rating at this time. DGUOK causes a hepatocerebral mitochondrial depletion disorder characterised by hepatic dysfunction, psychomotor delay, hypotonia, nystagmus/opsoclonus, lactic acidosis, hypoglycemia.
Paediatric pseudo-obstruction syndrome v0.174 DGUOK Arina Puzriakova Gene: dguok has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.173 DGUOK Arina Puzriakova Publications for gene: DGUOK were set to
Paediatric pseudo-obstruction syndrome v0.172 DGUOK Arina Puzriakova Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
Paediatric pseudo-obstruction syndrome v0.171 ZEB2 Achchuthan Shanmugasundram Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, OMIM:235730
Paediatric pseudo-obstruction syndrome v0.170 ZEB2 Achchuthan Shanmugasundram Publications for gene: ZEB2 were set to
Paediatric pseudo-obstruction syndrome v0.169 ZEB2 Achchuthan Shanmugasundram Mode of inheritance for gene: ZEB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric pseudo-obstruction syndrome v0.168 ZEB2 Achchuthan Shanmugasundram Classified gene: ZEB2 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.168 ZEB2 Achchuthan Shanmugasundram Gene: zeb2 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.167 ZEB2 Achchuthan Shanmugasundram reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11279515; Phenotypes: Mowat-Wilson syndrome, OMIM:235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric pseudo-obstruction syndrome v0.167 TYMP Achchuthan Shanmugasundram Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Paediatric pseudo-obstruction syndrome v0.166 TYMP Achchuthan Shanmugasundram Publications for gene: TYMP were set to
Paediatric pseudo-obstruction syndrome v0.165 TYMP Achchuthan Shanmugasundram Mode of inheritance for gene: TYMP was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.164 TYMP Achchuthan Shanmugasundram Classified gene: TYMP as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.164 TYMP Achchuthan Shanmugasundram Gene: tymp has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.163 TYMP Achchuthan Shanmugasundram reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31848803, 32898308, 33825174; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.163 TWNK Achchuthan Shanmugasundram Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Perrault syndrome 5, OMIM:616138
Paediatric pseudo-obstruction syndrome v0.162 TWNK Achchuthan Shanmugasundram Mode of inheritance for gene: TWNK was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.161 TWNK Achchuthan Shanmugasundram Publications for gene: TWNK were set to
Paediatric pseudo-obstruction syndrome v0.160 TWNK Achchuthan Shanmugasundram reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245, Perrault syndrome 5, OMIM:616138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.160 TTC7A Achchuthan Shanmugasundram Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
Paediatric pseudo-obstruction syndrome v0.159 TTC7A Achchuthan Shanmugasundram Publications for gene: TTC7A were set to
Paediatric pseudo-obstruction syndrome v0.158 TTC7A Achchuthan Shanmugasundram Mode of inheritance for gene: TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.157 TTC7A Achchuthan Shanmugasundram Classified gene: TTC7A as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.157 TTC7A Achchuthan Shanmugasundram Gene: ttc7a has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.156 TTC7A Achchuthan Shanmugasundram reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31787977, 34975848, 34985046, 35627206; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.156 TK2 Achchuthan Shanmugasundram Classified gene: TK2 as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.156 TK2 Achchuthan Shanmugasundram Gene: tk2 has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.155 TK2 Achchuthan Shanmugasundram edited their review of gene: TK2: Added comment: Comment on list classification: This gene should be rated RED as I do not see any association of this gene with intestinal dysmotility and pseudo-obstruction.

This gene has been associated with mitochondrial DNA depletion syndrome 2 (myopathic type) (MIM #609560) in OMIM. However, this disorder is characterised by hypotonia and muscle weakness, facial weakness, bulbar weakness (dysarthria and dysphagia) and elevated serum creatine phosphokinase. I do not see any clear indication of links of this disorder with either pseudo-obstruction or intestinal dysmotility.; Changed rating: RED
Paediatric pseudo-obstruction syndrome v0.155 TK2 Achchuthan Shanmugasundram Deleted their comment
Paediatric pseudo-obstruction syndrome v0.155 SUCLG1 Achchuthan Shanmugasundram Classified gene: SUCLG1 as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.155 SUCLG1 Achchuthan Shanmugasundram Gene: suclg1 has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.154 SUCLG1 Achchuthan Shanmugasundram edited their review of gene: SUCLG1: Added comment: Comment on list classification: This gene should be rated RED as I do not see any association of this gene with intestinal dysmotility and pseudo-obstruction.

This gene has been associated with mitochondrial DNA depletion syndrome 9 (encephalomyopathic with or without methylmalonic aciduria) (MIM #245400) in OMIM. However, this disorder is characterised by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Although other frequent manifestations include feeding difficulty and gastroesophageal reflux, there is no clear indication of any links of this disorder with either pseudo-obstruction or intestinal dysmotility.; Changed rating: RED
Paediatric pseudo-obstruction syndrome v0.154 SUCLG1 Achchuthan Shanmugasundram Deleted their comment
Paediatric pseudo-obstruction syndrome v0.154 SUCLA2 Achchuthan Shanmugasundram Classified gene: SUCLA2 as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.154 SUCLA2 Achchuthan Shanmugasundram Gene: sucla2 has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.153 SUCLA2 Achchuthan Shanmugasundram edited their review of gene: SUCLA2: Added comment: Comment on list classification: This gene should be rated RED as I do not see any association of this gene with intestinal dysmotility and pseudo-obstruction.

This gene has been associated with mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MIM #612073) in OMIM. However, this disorder is characterised by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria. Although other frequent manifestations include feeding difficulty and gastroesophageal reflux, there is no clear indication of any links of this disorder with either pseudo-obstruction or intestinal dysmotility.; Changed rating: RED
Paediatric pseudo-obstruction syndrome v0.153 SUCLA2 Achchuthan Shanmugasundram Deleted their comment
Paediatric pseudo-obstruction syndrome v0.153 MPV17 Achchuthan Shanmugasundram Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); OMIM:256810 to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810
Paediatric pseudo-obstruction syndrome v0.152 MPV17 Achchuthan Shanmugasundram edited their review of gene: MPV17: Changed phenotypes to: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810
Paediatric pseudo-obstruction syndrome v0.152 MPV17 Achchuthan Shanmugasundram changed review comment from: Comment on rating: The rating should be GREEN as this gene has been implicated in Navajo neurohepatopathy (MIM #256810) from multiple (>3) unrelated cases, and supported by functional studies.

PMID:35750291 recently reported two patients from unrelated families with different variants from MPV17 gene.

PMID:29282788 summarised the clinical features of 100 affected individuals with a total of 48 pathogenic variants in MPV17 gene, of which 25 new individuals with nine novel variants were reported in this publication.

This gene-disease association was already reported in both OMIM and G2P.; to: Comment on rating: The rating should be GREEN as this gene has been implicated in Navajo neurohepatopathy (MIM #256810) from multiple (>3) unrelated cases, and supported by functional studies.

PMID:35750291 recently reported two patients from unrelated families with different variants from MPV17 gene.

PMID:29282788 summarised the clinical features of 100 affected individuals with a total of 48 pathogenic variants in MPV17 gene, of which 25 new individuals with nine novel variants were reported in this publication. About a third of these individuals have feeding difficulties and gastrointestinal dysmotility manifesting as gastroesophagal reflux, recurrent vomiting, and diarrhoea.

This gene-disease association was already reported in both OMIM and G2P.
Paediatric pseudo-obstruction syndrome v0.152 TPM3 Achchuthan Shanmugasundram reviewed gene: TPM3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.152 TK2 Achchuthan Shanmugasundram Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Paediatric pseudo-obstruction syndrome v0.151 TK2 Achchuthan Shanmugasundram Publications for gene: TK2 were set to
Paediatric pseudo-obstruction syndrome v0.150 TK2 Achchuthan Shanmugasundram Mode of inheritance for gene: TK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.149 TK2 Achchuthan Shanmugasundram Classified gene: TK2 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.149 TK2 Achchuthan Shanmugasundram Gene: tk2 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.148 TK2 Achchuthan Shanmugasundram reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23385875; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.148 SURF1 Achchuthan Shanmugasundram Phenotypes for gene: SURF1 were changed from to Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110
Paediatric pseudo-obstruction syndrome v0.147 SURF1 Achchuthan Shanmugasundram edited their review of gene: SURF1: Changed phenotypes to: Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110
Paediatric pseudo-obstruction syndrome v0.147 SURF1 Achchuthan Shanmugasundram reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.147 SUCLG1 Achchuthan Shanmugasundram Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), OMIM:245400
Paediatric pseudo-obstruction syndrome v0.146 SUCLG1 Achchuthan Shanmugasundram Publications for gene: SUCLG1 were set to
Paediatric pseudo-obstruction syndrome v0.145 SUCLG1 Achchuthan Shanmugasundram Mode of inheritance for gene: SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.144 SUCLG1 Achchuthan Shanmugasundram Classified gene: SUCLG1 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.144 SUCLG1 Achchuthan Shanmugasundram Gene: suclg1 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.143 SUCLG1 Achchuthan Shanmugasundram edited their review of gene: SUCLG1: Changed rating: GREEN
Paediatric pseudo-obstruction syndrome v0.143 SUCLG1 Achchuthan Shanmugasundram reviewed gene: SUCLG1: Rating: ; Mode of pathogenicity: None; Publications: 19526370, 20453710, 23385875, 26028457, 33230783, 35762302; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), OMIM:245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.143 SUCLA2 Achchuthan Shanmugasundram Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Paediatric pseudo-obstruction syndrome v0.142 SUCLA2 Achchuthan Shanmugasundram Publications for gene: SUCLA2 were set to
Paediatric pseudo-obstruction syndrome v0.141 SUCLA2 Achchuthan Shanmugasundram Mode of inheritance for gene: SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.140 SUCLA2 Achchuthan Shanmugasundram Classified gene: SUCLA2 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.140 SUCLA2 Achchuthan Shanmugasundram Gene: sucla2 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.139 SUCLA2 Achchuthan Shanmugasundram reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23385875; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.139 SOX10 Achchuthan Shanmugasundram Phenotypes for gene: SOX10 were changed from to PCWH syndrome, OMIM:609136; Waardenburg syndrome, type 4C, OMIM:613266
Paediatric pseudo-obstruction syndrome v0.138 SOX10 Achchuthan Shanmugasundram Publications for gene: SOX10 were set to
Paediatric pseudo-obstruction syndrome v0.137 SOX10 Achchuthan Shanmugasundram Mode of inheritance for gene: SOX10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.136 SOX10 Achchuthan Shanmugasundram Classified gene: SOX10 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.136 SOX10 Achchuthan Shanmugasundram Gene: sox10 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.135 SOX10 Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189494; Phenotypes: PCWH syndrome, OMIM:609136, Waardenburg syndrome, type 4C, OMIM:613266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.135 SGO1 Achchuthan Shanmugasundram Phenotypes for gene: SGO1 were changed from to Chronic atrial and intestinal dysrhythmia, OMIM:616201
Paediatric pseudo-obstruction syndrome v0.134 SGO1 Achchuthan Shanmugasundram Publications for gene: SGO1 were set to
Paediatric pseudo-obstruction syndrome v0.133 SGO1 Achchuthan Shanmugasundram Mode of inheritance for gene: SGO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.132 SGO1 Achchuthan Shanmugasundram Classified gene: SGO1 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.132 SGO1 Achchuthan Shanmugasundram Gene: sgo1 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.131 SGO1 Achchuthan Shanmugasundram reviewed gene: SGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25282101, 31848803; Phenotypes: Chronic atrial and intestinal dysrhythmia, OMIM:616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.131 SEMA3F Achchuthan Shanmugasundram Publications for gene: SEMA3F were set to
Paediatric pseudo-obstruction syndrome v0.130 SEMA3F Achchuthan Shanmugasundram Phenotypes for gene: SEMA3F were changed from to megacolon, MONDO:0001273
Paediatric pseudo-obstruction syndrome v0.129 SEMA3F Achchuthan Shanmugasundram Mode of inheritance for gene: SEMA3F was changed from to Unknown
Paediatric pseudo-obstruction syndrome v0.128 SEMA3F Achchuthan Shanmugasundram reviewed gene: SEMA3F: Rating: RED; Mode of pathogenicity: None; Publications: 30663199; Phenotypes: megacolon, MONDO:0001273; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.128 SDHA Achchuthan Shanmugasundram edited their review of gene: SDHA: Changed rating: RED
Paediatric pseudo-obstruction syndrome v0.128 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Paediatric pseudo-obstruction syndrome v0.128 SCN10A Achchuthan Shanmugasundram reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.128 RRM2B Achchuthan Shanmugasundram Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075
Paediatric pseudo-obstruction syndrome v0.127 RRM2B Achchuthan Shanmugasundram Publications for gene: RRM2B were set to
Paediatric pseudo-obstruction syndrome v0.126 RRM2B Achchuthan Shanmugasundram Mode of inheritance for gene: RRM2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.125 RRM2B Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene should be rated RED as this gene was associated with mitochondrial DNA depletion syndrome 8B (MNGIE type) (#612075) from only one patient from PMID:19667227.

This adult patient exhibited clinical findings strongly suggestive for MNGIE such as gastrointestinal dysmotility, cachexia and peripheral neuropathy. This patient also showed severe mtDNA depletion in muscle tissue and was identified with two variants in the RRM2B gene.

Although gastrointestinal phenotypes are found in some of the patients with mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) (10 out of 31), these are limited to recurrent vomiting, feed intolerance, chronic diarrhea and cachexia and none of them had gastrointestinal dysmotility or pseudo-obstruction.

This gene is associated with relevant phenotypes in both OMIM and G2P.; to: Comment on list classification: This gene should be rated RED as this gene was associated with mitochondrial DNA depletion syndrome 8B (MNGIE type) (#612075) from only one patient from PMID:19667227.

This adult patient exhibited clinical findings strongly suggestive for MNGIE such as gastrointestinal dysmotility, cachexia and peripheral neuropathy. This patient also showed severe mtDNA depletion in muscle tissue and was identified with two variants in the RRM2B gene.

Although gastrointestinal phenotypes are found in some of the patients with mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) (10 out of 31), these are limited to recurrent vomiting, feed intolerance, chronic diarrhea and cachexia and none of them had gastrointestinal dysmotility or pseudo-obstruction (PMID:24741716).

This gene is associated with relevant phenotypes in both OMIM and G2P.
Paediatric pseudo-obstruction syndrome v0.125 RRM2B Achchuthan Shanmugasundram edited their review of gene: RRM2B: Changed publications to: 19667227, 23385875, 24741716
Paediatric pseudo-obstruction syndrome v0.125 RRM2B Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: 19667227, 23385875; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.125 RET Achchuthan Shanmugasundram Phenotypes for gene: RET were changed from to {Hirschsprung disease, susceptibility to, 1}, 142623; {Hirschsprung disease, protection against}, 142623
Paediatric pseudo-obstruction syndrome v0.124 RET Achchuthan Shanmugasundram Publications for gene: RET were set to
Paediatric pseudo-obstruction syndrome v0.123 RET Achchuthan Shanmugasundram Mode of inheritance for gene: RET was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.122 RET Achchuthan Shanmugasundram Classified gene: RET as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.122 RET Achchuthan Shanmugasundram Gene: ret has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.121 RET Achchuthan Shanmugasundram reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: 21960833, 31848803, 34092334, 36521661; Phenotypes: {Hirschsprung disease, susceptibility to, 1}, 142623, {Hirschsprung disease, protection against}, 142623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.121 RAD21 Achchuthan Shanmugasundram Phenotypes for gene: RAD21 were changed from to Mungan syndrome, OMIM:611376
Paediatric pseudo-obstruction syndrome v0.120 RAD21 Achchuthan Shanmugasundram Publications for gene: RAD21 were set to
Paediatric pseudo-obstruction syndrome v0.119 RAD21 Achchuthan Shanmugasundram Mode of inheritance for gene: RAD21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.118 RAD21 Achchuthan Shanmugasundram Classified gene: RAD21 as Amber List (moderate evidence)
Paediatric pseudo-obstruction syndrome v0.118 RAD21 Achchuthan Shanmugasundram Gene: rad21 has been classified as Amber List (Moderate Evidence).
Paediatric pseudo-obstruction syndrome v0.117 RAD21 Achchuthan Shanmugasundram Classified gene: RAD21 as Amber List (moderate evidence)
Paediatric pseudo-obstruction syndrome v0.117 RAD21 Achchuthan Shanmugasundram Gene: rad21 has been classified as Amber List (Moderate Evidence).
Paediatric pseudo-obstruction syndrome v0.116 RAD21 Achchuthan Shanmugasundram reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: None; Publications: 14638363, 21832993, 25575569, 31848803, 32687945; Phenotypes: Mungan syndrome, OMIM:611376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.116 PROKR2 Achchuthan Shanmugasundram Phenotypes for gene: PROKR2 were changed from to Hirschsprung disease, MONDO:0018309
Paediatric pseudo-obstruction syndrome v0.115 PROKR2 Achchuthan Shanmugasundram Publications for gene: PROKR2 were set to
Paediatric pseudo-obstruction syndrome v0.114 PROKR2 Achchuthan Shanmugasundram Mode of inheritance for gene: PROKR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.113 PROKR2 Achchuthan Shanmugasundram Classified gene: PROKR2 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.113 PROKR2 Achchuthan Shanmugasundram Gene: prokr2 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.112 PROKR2 Achchuthan Shanmugasundram reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21858136; Phenotypes: Hirschsprung disease, MONDO:0018309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.112 PROKR1 Achchuthan Shanmugasundram Phenotypes for gene: PROKR1 were changed from to Hirschsprung disease, MONDO:0018309
Paediatric pseudo-obstruction syndrome v0.111 PROKR1 Achchuthan Shanmugasundram Publications for gene: PROKR1 were set to
Paediatric pseudo-obstruction syndrome v0.110 PROKR1 Achchuthan Shanmugasundram Mode of inheritance for gene: PROKR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.109 PROKR1 Achchuthan Shanmugasundram Classified gene: PROKR1 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.109 PROKR1 Achchuthan Shanmugasundram Gene: prokr1 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.108 PROKR1 Achchuthan Shanmugasundram reviewed gene: PROKR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21858136; Phenotypes: Hirschsprung disease, MONDO:0018309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.108 PROK1 Achchuthan Shanmugasundram Phenotypes for gene: PROK1 were changed from to Hirschsprung disease, MONDO:0018309
Paediatric pseudo-obstruction syndrome v0.107 PROK1 Achchuthan Shanmugasundram Publications for gene: PROK1 were set to
Paediatric pseudo-obstruction syndrome v0.106 PROK1 Achchuthan Shanmugasundram Mode of inheritance for gene: PROK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.105 PROK1 Achchuthan Shanmugasundram Classified gene: PROK1 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.105 PROK1 Achchuthan Shanmugasundram Gene: prok1 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.104 PROK1 Achchuthan Shanmugasundram reviewed gene: PROK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21858136; Phenotypes: Hirschsprung disease, MONDO:0018309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.104 POLG Achchuthan Shanmugasundram Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Paediatric pseudo-obstruction syndrome v0.103 POLG Achchuthan Shanmugasundram Publications for gene: POLG were set to
Paediatric pseudo-obstruction syndrome v0.102 POLG Achchuthan Shanmugasundram Mode of inheritance for gene: POLG was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.101 POLG Achchuthan Shanmugasundram Classified gene: POLG as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.101 POLG Achchuthan Shanmugasundram Gene: polg has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.100 POLG Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 12825077, 19307547, 21993618, 23385875, 31848803; Phenotypes: Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.100 PDCL3 Achchuthan Shanmugasundram Phenotypes for gene: PDCL3 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MONDO:0025986
Paediatric pseudo-obstruction syndrome v0.99 PDCL3 Achchuthan Shanmugasundram Publications for gene: PDCL3 were set to
Paediatric pseudo-obstruction syndrome v0.98 PDCL3 Achchuthan Shanmugasundram Mode of inheritance for gene: PDCL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.97 PDCL3 Achchuthan Shanmugasundram reviewed gene: PDCL3: Rating: RED; Mode of pathogenicity: None; Publications: 32621347; Phenotypes: megacystis-microcolon-intestinal hypoperistalsis syndrome, MONDO:0025986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.97 NKX2-1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Not associated with any relevant phenotype in OMIM or G2P. PMID:30663199 does not report any cases associated with NKX2-1 and a quick literature search did not find any literature making an association. So, this gene should be rated as RED.; to: Comment on list classification: The phenotypes that are reported in OMIM or G2P are not relevant to this panel. PMID:30663199 does not report any cases associated with NKX2-1 and a quick literature search did not find any literature making an association. So, this gene should be rated as RED.
Paediatric pseudo-obstruction syndrome v0.97 NRTN Achchuthan Shanmugasundram reviewed gene: NRTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.97 NKX2-1 Achchuthan Shanmugasundram reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.97 NDUFS1 Achchuthan Shanmugasundram reviewed gene: NDUFS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.97 MYLK Achchuthan Shanmugasundram Phenotypes for gene: MYLK were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Paediatric pseudo-obstruction syndrome v0.96 MYLK Achchuthan Shanmugasundram Publications for gene: MYLK were set to
Paediatric pseudo-obstruction syndrome v0.95 MYLK Achchuthan Shanmugasundram Mode of inheritance for gene: MYLK was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.94 MYLK Achchuthan Shanmugasundram Classified gene: MYLK as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.94 MYLK Achchuthan Shanmugasundram Gene: mylk has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.93 MYLK Achchuthan Shanmugasundram reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28602422, 31848803, 33729000; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.93 MYL9 Achchuthan Shanmugasundram Phenotypes for gene: MYL9 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365
Paediatric pseudo-obstruction syndrome v0.92 MYL9 Achchuthan Shanmugasundram Publications for gene: MYL9 were set to
Paediatric pseudo-obstruction syndrome v0.91 MYL9 Achchuthan Shanmugasundram Mode of inheritance for gene: MYL9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.90 MYL9 Achchuthan Shanmugasundram Classified gene: MYL9 as Amber List (moderate evidence)
Paediatric pseudo-obstruction syndrome v0.90 MYL9 Achchuthan Shanmugasundram Gene: myl9 has been classified as Amber List (Moderate Evidence).
Paediatric pseudo-obstruction syndrome v0.89 MYL9 Achchuthan Shanmugasundram reviewed gene: MYL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 27481187, 31848803, 33031641, 33729000; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.89 MYH11 Achchuthan Shanmugasundram Phenotypes for gene: MYH11 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351; Visceral myopathy 2, OMIM:619350
Paediatric pseudo-obstruction syndrome v0.88 MYH11 Achchuthan Shanmugasundram Publications for gene: MYH11 were set to
Paediatric pseudo-obstruction syndrome v0.87 MYH11 Achchuthan Shanmugasundram Mode of inheritance for gene: MYH11 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.86 MYH11 Achchuthan Shanmugasundram edited their review of gene: MYH11: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.86 MYH11 Achchuthan Shanmugasundram Classified gene: MYH11 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.86 MYH11 Achchuthan Shanmugasundram Gene: myh11 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.85 MYH11 Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 25407000, 29575632, 31044419, 31389005, 31427716, 31848803, 31944481, 33729000; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351, Visceral myopathy 2, OMIM:619350; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.85 MPV17 Achchuthan Shanmugasundram Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); OMIM:256810
Paediatric pseudo-obstruction syndrome v0.84 MPV17 Achchuthan Shanmugasundram Publications for gene: MPV17 were set to
Paediatric pseudo-obstruction syndrome v0.83 MPV17 Achchuthan Shanmugasundram Classified gene: MPV17 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.83 MPV17 Achchuthan Shanmugasundram Gene: mpv17 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.82 MPV17 Achchuthan Shanmugasundram reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 23385875, 29282788, 35750291; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.82 PHOX2B Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance of both monoalleic and biallelic has been selected as PubMed: 30672101 reports a family where monoallelic family members are unaffected, but the compound heterozygous patient is affected.
Paediatric pseudo-obstruction syndrome v0.82 PHOX2B Sarah Leigh Mode of inheritance for gene: PHOX2B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.81 PHOX2B Sarah Leigh Classified gene: PHOX2B as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.81 PHOX2B Sarah Leigh Gene: phox2b has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.80 PHOX2B Sarah Leigh reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.80 PHOX2B Sarah Leigh Publications for gene: PHOX2B were set to 30672101; 29543228; 12438263
Paediatric pseudo-obstruction syndrome v0.79 PHOX2B Sarah Leigh Publications for gene: PHOX2B were set to 30672101
Paediatric pseudo-obstruction syndrome v0.78 PHOX2B Sarah Leigh Phenotypes for gene: PHOX2B were changed from Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031 to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031; Neuroblastoma with Hirschsprung disease, OMIM:613013; neuroblastoma, susceptibility to, 2, MONDO:0700041
Paediatric pseudo-obstruction syndrome v0.77 PHOX2B Sarah Leigh Mode of inheritance for gene: PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.76 PHOX2B Sarah Leigh Publications for gene: PHOX2B were set to
Paediatric pseudo-obstruction syndrome v0.75 PHOX2B Sarah Leigh Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031
Paediatric pseudo-obstruction syndrome v0.74 PHOX2B Sarah Leigh Mode of inheritance for gene: PHOX2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.73 LMOD1 Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: This gene should be rated GREEN, as this gene has been implicated in megacystis microcolon intestinal hypoperistalsis syndrome in two unrelated patients and is supported by evidence from mouse model.

A dutch female infant identified with homozygous nonsense variant (p.R370X) died at 5 days of life. Both her parents were heterozygous for the same variant. The clinical presentations include distended and lax abdominal wall, with palpable intestines, bladder distention, bilateral distention of the proximal ureters, and hydronephrosis (PMID:28292896).

A male infant with compound heterozygous missense variants (p.T369M; p.R421H) was also presented with typical symptoms of pediatric intestinal pseudo-obstruction (PIPO) but without megacystis and microcolon (PMID:35170814).

A mouse model with a similar Lmod1 mutation, engineered with CRISPR-Cas9 genome editing, exhibited the same gastrointestinal and urinary bladder phenotypes as seen in the dutch female infant (PMID:28292896).; to: Comment on classification of this gene: This gene should be rated GREEN, as this gene has been implicated in megacystis microcolon intestinal hypoperistalsis syndrome in two unrelated patients and is supported by evidence from mouse model.

A dutch female infant identified with homozygous nonsense variant (p.R370X) died at 5 days of life. Both her parents were heterozygous for the same variant. The clinical presentations include distended and lax abdominal wall, with palpable intestines, bladder distention, bilateral distention of the proximal ureters, and hydronephrosis (PMID:28292896).

A male infant with compound heterozygous missense variants (p.T369M; p.R421H) was also presented with typical symptoms of pediatric intestinal pseudo-obstruction (PIPO) but without megacystis and microcolon (PMID:35170814).

A mouse model with a similar Lmod1 mutation, engineered with CRISPR-Cas9 genome editing, exhibited the same gastrointestinal and urinary bladder phenotypes as seen in the dutch female infant (PMID:28292896).

This gene-disease association has already been reported in OMIM.
Paediatric pseudo-obstruction syndrome v0.73 LMOD1 Achchuthan Shanmugasundram Publications for gene: LMOD1 were set to
Paediatric pseudo-obstruction syndrome v0.72 LMOD1 Achchuthan Shanmugasundram Phenotypes for gene: LMOD1 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, OMIM:619362
Paediatric pseudo-obstruction syndrome v0.71 LMOD1 Achchuthan Shanmugasundram Mode of inheritance for gene: LMOD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.70 LMOD1 Achchuthan Shanmugasundram Classified gene: LMOD1 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.70 LMOD1 Achchuthan Shanmugasundram Gene: lmod1 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.69 LMOD1 Achchuthan Shanmugasundram reviewed gene: LMOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28292896, 35170814; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, OMIM:619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.69 DGUOK Arina Puzriakova Mode of inheritance for gene: DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.68 DDX3X Arina Puzriakova Publications for gene: DDX3X were set to
Paediatric pseudo-obstruction syndrome v0.67 DDX3X Arina Puzriakova Classified gene: DDX3X as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.67 DDX3X Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a syndromic ID phenotype. Gastrointestinal disturbances were exhibited by one patient with severe constipation and a recurrent paralytic ileus (PMID: 32896648), and another patient with persistent gastro-oesophageal reflux (PMID: 30734472) although the latter isn't within the scope of this panel. Based on only one individual found displaying a phenotype that is relevant to this panel, recommending this gene is rated Red until further cases are reported. Cases are more likely to be picked up via other routes such as the ID panel.
Paediatric pseudo-obstruction syndrome v0.67 DDX3X Arina Puzriakova Gene: ddx3x has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.66 LIG3 Achchuthan Shanmugasundram Phenotypes for gene: LIG3 were changed from to Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780
Paediatric pseudo-obstruction syndrome v0.65 LIG3 Achchuthan Shanmugasundram Publications for gene: LIG3 were set to
Paediatric pseudo-obstruction syndrome v0.64 LIG3 Achchuthan Shanmugasundram Mode of inheritance for gene: LIG3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.63 LIG3 Achchuthan Shanmugasundram Classified gene: LIG3 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.63 LIG3 Achchuthan Shanmugasundram Gene: lig3 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.62 LIG3 Achchuthan Shanmugasundram changed review comment from: Comment on rating: The rating should be GREEN as this gene has been implicated in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MIM #619780) from seven patients from three unrelated families, and supported by functional studies.

These patients harboured compound heterozygous variants (family 1: p.K537N & p.G964R; family 2: p.C999Y & p.R267Ter; family 3: p.P609L & p.R811Ter) and their clinical phenotypes resembled the mitochondrial MINGE disease in many aspects. Severe dysmotility of the gut was present in all patients and most patients fulfilled the diagnostic criteria for CIPO.

Evidence from skeletal muscle biopsies from patients from all three families showed mitochondrial dysfunction. In vitro assays in patient-derived cells showed a decrease in LIG3 protein levels and ligase activity. In addition, LIG3 gene defects result in mitochondrial DNA depletion.

In vivo modelling of LIG3 mutations in zebrafish model also reproduced the brain alterations and impaired gut transit.; to: Comment on rating: The rating should be GREEN as this gene has been implicated in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MIM #619780) from seven patients from three unrelated families, and supported by functional studies.

These patients harboured compound heterozygous variants (family 1: p.K537N & p.G964R; family 2: p.C999Y & p.R267Ter; family 3: p.P609L & p.R811Ter) and their clinical phenotypes resembled the mitochondrial MINGE disease in many aspects. Severe dysmotility of the gut was present in all patients and most patients fulfilled the diagnostic criteria for CIPO.

Evidence from skeletal muscle biopsies from patients from all three families showed mitochondrial dysfunction. In vitro assays in patient-derived cells showed a decrease in LIG3 protein levels and ligase activity. In addition, LIG3 gene defects result in mitochondrial DNA depletion.

In vivo modelling of LIG3 mutations in zebrafish model also reproduced the brain alterations and impaired gut transit.

This gene has already been reported in OMIM.
Paediatric pseudo-obstruction syndrome v0.62 LIG3 Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33855352; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.62 DDX3X Arina Puzriakova Phenotypes for gene: DDX3X were changed from Intellectual developmental disorder, X-linked syndromic, Snijders Blok type 300958 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Paediatric pseudo-obstruction syndrome v0.61 DDX3X Arina Puzriakova Mode of inheritance for gene: DDX3X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paediatric pseudo-obstruction syndrome v0.60 DDX3X Arina Puzriakova Phenotypes for gene: DDX3X were changed from to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type 300958
Paediatric pseudo-obstruction syndrome v0.59 COX15 Arina Puzriakova Classified gene: COX15 as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.59 COX15 Arina Puzriakova Added comment: Comment on list classification: Could not find clear evidence linking this gene with intestinal pseudo-obstruction and therefore recommending Red gene rating at this time.
Paediatric pseudo-obstruction syndrome v0.59 COX15 Arina Puzriakova Gene: cox15 has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.58 L1CAM Achchuthan Shanmugasundram commented on gene: L1CAM: Added a 'monogenic-polygenic' tag based on patient in PMID:22344793 who carried both L1CAM and RET variants.
Paediatric pseudo-obstruction syndrome v0.58 L1CAM Achchuthan Shanmugasundram Tag monogenic-polygenic tag was added to gene: L1CAM.
Paediatric pseudo-obstruction syndrome v0.58 L1CAM Achchuthan Shanmugasundram Classified gene: L1CAM as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.58 L1CAM Achchuthan Shanmugasundram Gene: l1cam has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.57 L1CAM Achchuthan Shanmugasundram Mode of inheritance for gene: L1CAM was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric pseudo-obstruction syndrome v0.56 L1CAM Achchuthan Shanmugasundram Phenotypes for gene: L1CAM were changed from to Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, OMIM:307000
Paediatric pseudo-obstruction syndrome v0.55 L1CAM Achchuthan Shanmugasundram Publications for gene: L1CAM were set to
Paediatric pseudo-obstruction syndrome v0.54 L1CAM Achchuthan Shanmugasundram reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28543993, 20860806, 22344793, 11857550, 15148591, 19641926, 9279760; Phenotypes: Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, OMIM:307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric pseudo-obstruction syndrome v0.54 KIF26A Achchuthan Shanmugasundram Publications for gene: KIF26A were set to
Paediatric pseudo-obstruction syndrome v0.53 KIF26A Achchuthan Shanmugasundram reviewed gene: KIF26A: Rating: RED; Mode of pathogenicity: None; Publications: 19914172, 33542431; Phenotypes: ; Mode of inheritance: None
Paediatric pseudo-obstruction syndrome v0.53 COX15 Arina Puzriakova Mode of inheritance for gene: COX15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.52 COX15 Arina Puzriakova Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Paediatric pseudo-obstruction syndrome v0.51 GFRA1 Achchuthan Shanmugasundram Phenotypes for gene: GFRA1 were changed from to Susceptibility to Hirschsprung disease, MONDO:0100179
Paediatric pseudo-obstruction syndrome v0.50 GFRA1 Achchuthan Shanmugasundram Publications for gene: GFRA1 were set to
Paediatric pseudo-obstruction syndrome v0.49 GFRA1 Achchuthan Shanmugasundram Mode of inheritance for gene: GFRA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric pseudo-obstruction syndrome v0.48 GFRA1 Achchuthan Shanmugasundram Classified gene: GFRA1 as Amber List (moderate evidence)
Paediatric pseudo-obstruction syndrome v0.48 GFRA1 Achchuthan Shanmugasundram Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Paediatric pseudo-obstruction syndrome v0.47 GFRA1 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: GFRA1.
Paediatric pseudo-obstruction syndrome v0.47 GFRA1 Achchuthan Shanmugasundram changed review comment from: Added watchlist tag as panel 63 to be notified of additional cases.; to: Added watchlist tag as in panel 63 to be notified of additional cases.
Paediatric pseudo-obstruction syndrome v0.47 GFRA1 Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: Tis gene should be rated AMBER as curated in Familial Hirschsprung Disease panel (https://panelapp.genomicsengland.co.uk/panels/63/gene/GFRA1/). There is only limited literature evidence to support a causation role in Hirschsprung disease.

This gene is not associated with Susceptibility to Hirschsprung disease in OMIM yet.; to: Comment on classification of this gene: This gene should be rated AMBER as curated in Familial Hirschsprung Disease panel (https://panelapp.genomicsengland.co.uk/panels/63/gene/GFRA1/). There is only limited literature evidence to support a causation role in Hirschsprung disease.

This gene has not yet been associated with Susceptibility to Hirschsprung disease in OMIM.
Paediatric pseudo-obstruction syndrome v0.47 GFRA1 Achchuthan Shanmugasundram commented on gene: GFRA1: Added watchlist tag as panel 63 to be notified of additional cases.
Paediatric pseudo-obstruction syndrome v0.47 COX10 Arina Puzriakova Classified gene: COX10 as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.47 COX10 Arina Puzriakova Added comment: Comment on list classification: Could not find clear evidence linking this gene with intestinal pseudo-obstruction and therefore recommending Red gene rating at this time.
Paediatric pseudo-obstruction syndrome v0.47 COX10 Arina Puzriakova Gene: cox10 has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.46 GFRA1 Achchuthan Shanmugasundram reviewed gene: GFRA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28543993, 27370713, 9545641, 17507417, 12624147; Phenotypes: Susceptibility to Hirschsprung disease, MONDO:0100179; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric pseudo-obstruction syndrome v0.46 CHRNE Arina Puzriakova Publications for gene: CHRNE were set to
Paediatric pseudo-obstruction syndrome v0.45 C17orf107 Arina Puzriakova Publications for gene: C17orf107 were set to
Paediatric pseudo-obstruction syndrome v0.44 C17orf107 Arina Puzriakova Phenotypes for gene: C17orf107 were changed from to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Paediatric pseudo-obstruction syndrome v0.43 CHRNE Arina Puzriakova Phenotypes for gene: CHRNE were changed from to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Paediatric pseudo-obstruction syndrome v0.42 CHRNE Arina Puzriakova Mode of inheritance for gene: CHRNE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.41 CHRNE Arina Puzriakova Classified gene: CHRNE as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.41 CHRNE Arina Puzriakova Added comment: Comment on list classification: C17orf107 [CHRNE] is associated with congenital myasthenic syndromes, however I could not find clear evidence of intestinal disturbance and therefore recommending a Red gene rating at this time.
Paediatric pseudo-obstruction syndrome v0.41 CHRNE Arina Puzriakova Gene: chrne has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.40 C17orf107 Arina Puzriakova Classified gene: C17orf107 as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.40 C17orf107 Arina Puzriakova Added comment: Comment on list classification: C17orf107 [CHRNE] is associated with congenital myasthenic syndromes, however I could not find clear evidence of intestinal disturbance and therefore recommending a Red gene rating at this time.
Paediatric pseudo-obstruction syndrome v0.40 C17orf107 Arina Puzriakova Gene: c17orf107 has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.39 C17orf107 Arina Puzriakova Mode of inheritance for gene: C17orf107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.38 GDNF Achchuthan Shanmugasundram Phenotypes for gene: GDNF were changed from to {Hirschsprung disease, susceptibility to, 3}, OMIM:613711
Paediatric pseudo-obstruction syndrome v0.37 GDNF Achchuthan Shanmugasundram Mode of inheritance for gene: GDNF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.36 GDNF Achchuthan Shanmugasundram reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hirschsprung disease, susceptibility to, 3}, OMIM:613711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.36 FLNA Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: The rating for this gene should be GREEN as this gene has been implicated in intestinal pseudo-obstruction, as identified from five unrelated families.

Four patients from family 1 reported with intestinal pseudo-obstruction in PMID:20871226 had diffuse abnormal layering of small intestinal smooth muscle (DAL). At least five males were affected in this family and they were all maternally-related. Both the mother and sister of patient 1 have normal intestinal motility and cranial magnetic resonance imaging, but the sister had a PDA and bifid uvula. Patient 5 from a second family was also reported with variant in FLNA gene (c.7021C>T; p.Gln2341Ter) and the parents also gave birth to a healthy female. Bot these cases suggest biallelic mode of inheritance in females.

2-bp deletion in exon 2 of the FLNA gene was found in the male proband and his second cousin and the variant was present in heterozygous state in the carrier females of the family (PMID:17357080). Similarly, a 4-bp deletion in exon 40 was identified in PMID:26059841, which results in translation of a mutant FLNA missing an internal region of 41 amino acids.

In another family, three males and four females were identified with a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). This variant causes classical X-linked periventricular nodular heterotopia (XL-PNH) in females and an unusual multi-organ phenotype in males (PMID:23873601).

This gene is associated to Intestinal pseudoobstruction, neuronal and Congenital short bowel syndrome in OMIM.; to: Comment on classification of this gene: The rating for this gene should be GREEN as this gene has been implicated in intestinal pseudo-obstruction, as identified from five unrelated families.

Four patients from family 1 reported with intestinal pseudo-obstruction in PMID:20871226 had diffuse abnormal layering of small intestinal smooth muscle (DAL). At least five males were affected in this family and they were all maternally-related. Both the mother and sister of patient 1 have normal intestinal motility and cranial magnetic resonance imaging, but the sister had a PDA and bifid uvula. Patient 5 from a second family was also reported with variant in FLNA gene (c.7021C>T; p.Gln2341Ter) and the parents also gave birth to a healthy female. Bot these cases suggest biallelic mode of inheritance in females.

2-bp deletion in exon 2 of the FLNA gene was found in the male proband and his second cousin and the variant was present in heterozygous state in the carrier females of the family (PMID:17357080). Similarly, a 4-bp deletion in exon 40 was identified in PMID:26059841, which results in translation of a mutant FLNA missing an internal region of 41 amino acids.

In another family, three males and four females were identified with a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). This variant causes classical X-linked periventricular nodular heterotopia (XL-PNH) in females and an unusual multi-organ phenotype in males (PMID:23873601).

This gene is associated with relevant phenotypes in both OMIM and Gene2Phenotype.
Paediatric pseudo-obstruction syndrome v0.36 FLNA Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: The rating for this gene should be GREEN as this gene has been implicated in intestinal pseudo-obstruction, as identified from five unrelated families.

Four patients from family 1 reported with intestinal pseudo-obstruction in PMID:20871226 had diffuse abnormal layering of small intestinal smooth muscle (DAL). At least five males were affected in this family and they were all maternally-related. Both the mother and sister of patient 1 have normal intestinal motility and cranial magnetic resonance imaging, but the sister had a PDA and bifid uvula. Patient 5 from a second family was also reported with variant in FLNA gene (c.7021C>T; p.Gln2341Ter) and the parents also gave birth to a healthy female. Bot these cases suggest biallelic mode of inheritance in females.

2-bp deletion in exon 2 of the FLNA gene was found in the male proband and his second cousin and the variant was present in heterozygous state in the carrier females of the family (PMID:17357080). Similarly, a 4-bp deletion in exon 40 was identified in PMID:26059841, which results in translation of a mutant FLNA missing an internal region of 41 amino acids.

In another family, three males and four females were identified with a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). This variant causes classical X-linked periventricular nodular heterotopia (XL-PNH) in females and an unusual multi-organ phenotype in males (PMID:23873601).; to: Comment on classification of this gene: The rating for this gene should be GREEN as this gene has been implicated in intestinal pseudo-obstruction, as identified from five unrelated families.

Four patients from family 1 reported with intestinal pseudo-obstruction in PMID:20871226 had diffuse abnormal layering of small intestinal smooth muscle (DAL). At least five males were affected in this family and they were all maternally-related. Both the mother and sister of patient 1 have normal intestinal motility and cranial magnetic resonance imaging, but the sister had a PDA and bifid uvula. Patient 5 from a second family was also reported with variant in FLNA gene (c.7021C>T; p.Gln2341Ter) and the parents also gave birth to a healthy female. Bot these cases suggest biallelic mode of inheritance in females.

2-bp deletion in exon 2 of the FLNA gene was found in the male proband and his second cousin and the variant was present in heterozygous state in the carrier females of the family (PMID:17357080). Similarly, a 4-bp deletion in exon 40 was identified in PMID:26059841, which results in translation of a mutant FLNA missing an internal region of 41 amino acids.

In another family, three males and four females were identified with a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). This variant causes classical X-linked periventricular nodular heterotopia (XL-PNH) in females and an unusual multi-organ phenotype in males (PMID:23873601).

This gene is associated to Intestinal pseudoobstruction, neuronal and Congenital short bowel syndrome in OMIM.
Paediatric pseudo-obstruction syndrome v0.36 FOCAD Achchuthan Shanmugasundram Phenotypes for gene: FOCAD were changed from to Chronic intestinal pseudoobstruction, MONDO:0017574
Paediatric pseudo-obstruction syndrome v0.35 FOCAD Achchuthan Shanmugasundram Publications for gene: FOCAD were set to
Paediatric pseudo-obstruction syndrome v0.34 FOCAD Achchuthan Shanmugasundram reviewed gene: FOCAD: Rating: RED; Mode of pathogenicity: None; Publications: 31814461; Phenotypes: Chronic intestinal pseudoobstruction, MONDO:0017574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.34 FLNA Achchuthan Shanmugasundram Phenotypes for gene: FLNA were changed from to Congenital short bowel syndrome, OMIM:300048; Intestinal pseudoobstruction, neuronal, OMIM:300048
Paediatric pseudo-obstruction syndrome v0.33 FLNA Achchuthan Shanmugasundram Publications for gene: FLNA were set to
Paediatric pseudo-obstruction syndrome v0.32 FLNA Achchuthan Shanmugasundram Mode of inheritance for gene: FLNA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric pseudo-obstruction syndrome v0.31 FLNA Achchuthan Shanmugasundram Classified gene: FLNA as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.31 FLNA Achchuthan Shanmugasundram Gene: flna has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.30 FLNA Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357080, 20871226, 23873601, 26059841, 31848803, 33729000; Phenotypes: Congenital short bowel syndrome, OMIM:300048, Intestinal pseudoobstruction, neuronal, OMIM:300048; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric pseudo-obstruction syndrome v0.30 ERBB2 Achchuthan Shanmugasundram Publications for gene: ERBB2 were set to 33497358
Paediatric pseudo-obstruction syndrome v0.29 ERBB2 Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: The rating for this gene should be RED, as the disease association was identified from only one family.

A Turkish female proband identified with biallelic variants (c.2129C>T/ p.Ala710Val) was reported with arthrogryposis, peripheral neuropathy, hearing loss and ptosis. Her brother with the same variant had similar clinical presentation with short-segment Hirschsprung disease (HSCR). In addition, histology revealed a lack of ganglion cells and a hyperplasia of nerve fibers in the colon resection specimen of the brother.

This gene-disease association is reported in OMIM, but not in Gene2Phenotype.; to: Comment on classification of this gene: The rating for this gene should be RED, as the disease association was identified from only one family.

A Turkish female proband identified with biallelic variants (c.2129C>T/ p.Ala710Val) was reported with arthrogryposis, peripheral neuropathy, hearing loss and ptosis. Her brother with the same variant had similar clinical presentation with short-segment Hirschsprung disease (HSCR). In addition, histology revealed a lack of ganglion cells and a hyperplasia of nerve fibers in the colon resection specimen of the brother.

This gene-disease association is reported in OMIM, but not in Gene2Phenotype.
Paediatric pseudo-obstruction syndrome v0.29 ERBB2 Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: The rating for this gene should be RED, as the disease association was identified from only one family.

A Turkish female proband identified with biallelic variants (c.2129C>T/ p.Ala710Val) was reported with arthrogryposis, peripheral neuropathy, hearing loss and ptosis. Her brother with the same variant had similar clinical presentation with short-segment Hirschsprung disease (HSCR). In addition, histology revealed a lack of ganglion cells and a hyperplasia of nerve fibers in the colon resection specimen of the brother.; to: Comment on classification of this gene: The rating for this gene should be RED, as the disease association was identified from only one family.

A Turkish female proband identified with biallelic variants (c.2129C>T/ p.Ala710Val) was reported with arthrogryposis, peripheral neuropathy, hearing loss and ptosis. Her brother with the same variant had similar clinical presentation with short-segment Hirschsprung disease (HSCR). In addition, histology revealed a lack of ganglion cells and a hyperplasia of nerve fibers in the colon resection specimen of the brother.

This gene-disease association is reported in OMIM, but not in Gene2Phenotype.
Paediatric pseudo-obstruction syndrome v0.29 ERBB3 Achchuthan Shanmugasundram Publications for gene: ERBB3 were set to
Paediatric pseudo-obstruction syndrome v0.28 ERBB3 Achchuthan Shanmugasundram Phenotypes for gene: ERBB3 were changed from to Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180
Paediatric pseudo-obstruction syndrome v0.27 ERBB3 Achchuthan Shanmugasundram Mode of inheritance for gene: ERBB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.26 ERBB3 Achchuthan Shanmugasundram Classified gene: ERBB3 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.26 ERBB3 Achchuthan Shanmugasundram Gene: erbb3 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.25 ERBB3 Achchuthan Shanmugasundram reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33497358; Phenotypes: Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.25 COX10 Arina Puzriakova Mode of inheritance for gene: COX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.24 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Paediatric pseudo-obstruction syndrome v0.23 BCS1L Arina Puzriakova Classified gene: BCS1L as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.23 BCS1L Arina Puzriakova Added comment: Comment on list classification: Could not find clear evidence linking this gene with intestinal pseudo-obstruction and therefore recommending Red gene rating at this time.
Paediatric pseudo-obstruction syndrome v0.23 BCS1L Arina Puzriakova Gene: bcs1l has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.22 BCS1L Arina Puzriakova Mode of inheritance for gene: BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.21 BCS1L Arina Puzriakova Phenotypes for gene: BCS1L were changed from to Mitochondrial complex III deficiency, nuclear type 1, OMIM:124000
Paediatric pseudo-obstruction syndrome v0.20 ERBB2 Achchuthan Shanmugasundram Publications for gene: ERBB2 were set to
Paediatric pseudo-obstruction syndrome v0.19 ERBB2 Achchuthan Shanmugasundram Phenotypes for gene: ERBB2 were changed from to Visceral neuropathy, familial, 2, autosomal recessive, OMIM:619465
Paediatric pseudo-obstruction syndrome v0.18 ERBB2 Achchuthan Shanmugasundram Mode of inheritance for gene: ERBB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.17 ERBB2 Achchuthan Shanmugasundram reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: 33497358; Phenotypes: Visceral neuropathy, familial, 2, autosomal recessive, OMIM:619465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.17 BCR Arina Puzriakova Classified gene: BCR as Red List (low evidence)
Paediatric pseudo-obstruction syndrome v0.17 BCR Arina Puzriakova Added comment: Comment on list classification: Not associated with any relevant phenotype in OMIM or G2P. Only a single patient has been reported in literature (PMID: 34190380) with paediatric intestinal pseudo-obstruction and a heterozygous de novo variant (c.3072+1G>A). Bcr null mice did display growth retardation and impaired gastrointestinal motility but additional patients required prior to adding as diagnostic-grade.
Paediatric pseudo-obstruction syndrome v0.17 BCR Arina Puzriakova Gene: bcr has been classified as Red List (Low Evidence).
Paediatric pseudo-obstruction syndrome v0.16 BCR Arina Puzriakova Phenotypes for gene: BCR were changed from to Paediatric intestinal pseudo-obstruction
Paediatric pseudo-obstruction syndrome v0.15 BCR Arina Puzriakova Mode of inheritance for gene: BCR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.14 BCR Arina Puzriakova Publications for gene: BCR were set to
Paediatric pseudo-obstruction syndrome v0.13 ACTG2 Arina Puzriakova Publications for gene: ACTG2 were set to 24676022; 24337657; 33729000
Paediatric pseudo-obstruction syndrome v0.12 ACTG2 Arina Puzriakova Publications for gene: ACTG2 were set to 24676022; 24337657; 33729000; 31848803
Paediatric pseudo-obstruction syndrome v0.11 ACTG2 Arina Puzriakova Publications for gene: ACTG2 were set to
Paediatric pseudo-obstruction syndrome v0.10 ACTG2 Arina Puzriakova Classified gene: ACTG2 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.10 ACTG2 Arina Puzriakova Gene: actg2 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.9 ACTG2 Arina Puzriakova Mode of inheritance for gene: ACTG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.8 ACTG2 Arina Puzriakova Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431; Visceral myopathy 1, OMIM:155310
Paediatric pseudo-obstruction syndrome v0.7 ACTG2 Arina Puzriakova Phenotypes for gene: ACTG2 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431
Paediatric pseudo-obstruction syndrome v0.6 ACTA2 Arina Puzriakova Classified gene: ACTA2 as Green List (high evidence)
Paediatric pseudo-obstruction syndrome v0.6 ACTA2 Arina Puzriakova Gene: acta2 has been classified as Green List (High Evidence).
Paediatric pseudo-obstruction syndrome v0.5 ACTA2 Arina Puzriakova Publications for gene: ACTA2 were set to
Paediatric pseudo-obstruction syndrome v0.4 ACTA2 Arina Puzriakova commented on gene: ACTA2
Paediatric pseudo-obstruction syndrome v0.4 ACTA2 Arina Puzriakova Phenotypes for gene: ACTA2 were changed from to Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Paediatric pseudo-obstruction syndrome v0.3 ACTA2 Arina Puzriakova Mode of inheritance for gene: ACTA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric pseudo-obstruction syndrome v0.2 ZEB2 Eleanor Williams reviewed gene: ZEB2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Mowat-Wilson syndrome with a variable predisposition to HSCR; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 TYMP Eleanor Williams reviewed gene: TYMP: Rating: ; Mode of pathogenicity: ; Publications: 31848803; Phenotypes: Accumulation of thymidine in mitochondrial DNA leads to impaired function. Multi-system mitochondrial disease with progressive gastrointestinal dysmotility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 TWNK Eleanor Williams reviewed gene: TWNK: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: Feeding intolerance, irregular rhythm of respiration, hypoglycemia, lactic acidosis, liver cytolysis and neurological abnormalities.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 TTC7A Eleanor Williams reviewed gene: TTC7A: Rating: ; Mode of pathogenicity: ; Publications: 31787977; Phenotypes: Lymphoproliferative syndrome and hypergammaglobulinemia and/or chronic intestinal pseudo-obstruction.; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 TPM3 Eleanor Williams reviewed gene: TPM3: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Megacolon; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 TK2 Eleanor Williams reviewed gene: TK2: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: myopathic changes on EMG, Loss of motor function, progressive external ophthalmoplegia, respiratory failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 SURF1 Eleanor Williams reviewed gene: SURF1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 SUCLG1 Eleanor Williams reviewed gene: SUCLG1: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: motor neuron changes on EMG, Decreased muscle tone, failure to thrive, microcephaly, GI dysmotility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 SUCLA2 Eleanor Williams reviewed gene: SUCLA2: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: motor neuron changes on EMG, Decreased muscle tone, failure to thrive, microcephaly, GI dysmotility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 SOX10 Eleanor Williams reviewed gene: SOX10: Rating: ; Mode of pathogenicity: ; Publications: 29570554, 31848803; Phenotypes: Peripheral neuropathy with hypomyelination, sensorineural deafness and pseudo-obstruction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 SGO1 Eleanor Williams reviewed gene: SGO1: Rating: ; Mode of pathogenicity: ; Publications: 31848803; Phenotypes: Accelerated cell cycle progression and enhanced activation of TGF-B signaling leading to changes in both the enteric nervous system and smooth muscle. ChronicAtrial andIntestinalDysrhythmia (CAID) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 SEMA3F Eleanor Williams reviewed gene: SEMA3F: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Megacolon; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 SDHA Eleanor Williams reviewed gene: SDHA: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 SCN10A Eleanor Williams reviewed gene: SCN10A: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Colon sensory neurons activation; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 RRM2B Eleanor Williams reviewed gene: RRM2B: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: Issues in maintenance of mtDNA dNTP pools; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 RET Eleanor Williams reviewed gene: RET: Rating: ; Mode of pathogenicity: ; Publications: 31848803; Phenotypes: Gain in function mutation associated with intestinal ganglioneuromas leading to increased cell number in the myenteric plexus and dysmotility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 RAD21 Eleanor Williams reviewed gene: RAD21: Rating: ; Mode of pathogenicity: ; Publications: 31848803; Phenotypes: Pseudo-obstruction, megaduodenum, long segment Barretts esophagus and cardiac abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 PROKR2 Eleanor Williams reviewed gene: PROKR2: Rating: ; Mode of pathogenicity: ; Publications: 21858136; Phenotypes: Long segment megacolon, HSCR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 PROKR1 Eleanor Williams reviewed gene: PROKR1: Rating: ; Mode of pathogenicity: ; Publications: 21858136; Phenotypes: Long segment megacolon, HSCR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 PROK1 Eleanor Williams reviewed gene: PROK1: Rating: ; Mode of pathogenicity: ; Publications: 21858136; Phenotypes: Long segment megacolon, HSCR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 POLG Eleanor Williams reviewed gene: POLG: Rating: ; Mode of pathogenicity: ; Publications: 23385875, 31848803; Phenotypes: Associated with mitochondrial depletion and deletions. Severe hypotonia and generalized muscle weakness, severe abdominal distension and hypoactive bowel; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 PHOX2B Eleanor Williams reviewed gene: PHOX2B: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: monogenic syndrome with a variable predisposition to HSCR; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 PDCL3 Eleanor Williams reviewed gene: PDCL3: Rating: ; Mode of pathogenicity: ; Publications: 32621347; Phenotypes: Loss-of-function of this protein affects the contractility of smooth muscle tissues; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 NRTN Eleanor Williams reviewed gene: NRTN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: 1 case reported.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 NKX2-1 Eleanor Williams reviewed gene: NKX2-1: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Megacolon, oesophageal atresia; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 NDUFS1 Eleanor Williams reviewed gene: NDUFS1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 MYLK Eleanor Williams reviewed gene: MYLK: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Abnormal MYLK leads to impaired smooth muscle cell contraction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 MYL9 Eleanor Williams reviewed gene: MYL9: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Abnormal MYL9 leads to impaired intestinal smooth muscle contractility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 MYH11 Eleanor Williams reviewed gene: MYH11: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Abnormal MYH11 in smooth muscle myosin leads to impaired contractility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 MPV17 Eleanor Williams reviewed gene: MPV17: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: Elevated transaminases, GGT, hyperbilirubinemia, failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 LMOD1 Eleanor Williams reviewed gene: LMOD1: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Abnormal LMOD1 leads to impaired intestinal smooth muscle contractility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 LIG3 Eleanor Williams reviewed gene: LIG3: Rating: ; Mode of pathogenicity: ; Publications: 33855352; Phenotypes: ; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 L1CAM Eleanor Williams reviewed gene: L1CAM: Rating: ; Mode of pathogenicity: ; Publications: 31848803; Phenotypes: Defect in the differentiation of the interstitial cells of Cajal leading to progressive distension and intermittent episodes of obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 KIF26A Eleanor Williams reviewed gene: KIF26A: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: GDNF-Ret in ENS development; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 GFRA1 Eleanor Williams reviewed gene: GFRA1: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Effect on ENS development; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 GDNF Eleanor Williams reviewed gene: GDNF: Rating: ; Mode of pathogenicity: ; Publications: 21858136; Phenotypes: Long segment megacolon, HSCR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 FOCAD Eleanor Williams reviewed gene: FOCAD: Rating: ; Mode of pathogenicity: ; Publications: 31814461; Phenotypes: familial intestinal degenerative neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 FLNA Eleanor Williams reviewed gene: FLNA: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Cytoskeletal abnormalities and potentially disrupts enteric-neuron structure and function. Seizures and progressive abdominal distension and obstruction; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paediatric pseudo-obstruction syndrome v0.2 ERBB3 Eleanor Williams reviewed gene: ERBB3: Rating: ; Mode of pathogenicity: ; Publications: 33720042; Phenotypes: Aganglionosis, hypoganglionosis, and intestinal smooth muscle abnormalities; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 ERBB2 Eleanor Williams reviewed gene: ERBB2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 EDNRB Eleanor Williams reviewed gene: EDNRB: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: monogenic syndrome with a variable predisposition to HSCR; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 EDN3 Eleanor Williams reviewed gene: EDN3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: monogenic syndrome with a variable predisposition to HSCR; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 ECE1 Eleanor Williams reviewed gene: ECE1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Short segment megacolon, craniofacial defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 DLX2 Eleanor Williams reviewed gene: DLX2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: massive proximal bowel distention attributed to abnormal motility; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 DLX1 Eleanor Williams reviewed gene: DLX1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: massive proximal bowel distention attributed to abnormal motility; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 DGUOK Eleanor Williams reviewed gene: DGUOK: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: Elevated serum concentration of tyrosine/phenylalanine, elevation of liver enzymes, increased serum concentration of ferritin, deficiency in complexes I, III, IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.2 DDX3X Eleanor Williams reviewed gene: DDX3X: Rating: ; Mode of pathogenicity: ; Publications: 32896648; Phenotypes: Psychomotor retardation, severe constipation, and a recurrent paralytic ileus.; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 COX15 Eleanor Williams reviewed gene: COX15: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 COX10 Eleanor Williams reviewed gene: COX10: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 CHRNE Eleanor Williams reviewed gene: CHRNE: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Congenital myasthenia, cholinergic receptors; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 C17orf107 Eleanor Williams reviewed gene: C17orf107: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Congenital myasthenia, cholinergic receptors; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 BCS1L Eleanor Williams reviewed gene: BCS1L: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 BCR Eleanor Williams reviewed gene: BCR: Rating: ; Mode of pathogenicity: ; Publications: 34190380; Phenotypes: Growth retardation and impaired gastrointestinal motility; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.2 ACTG2 Eleanor Williams reviewed gene: ACTG2: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Altered ACTG2 protein in the muscularis propria leads to impaired contractility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric pseudo-obstruction syndrome v0.2 ACTA2 Eleanor Williams reviewed gene: ACTA2: Rating: ; Mode of pathogenicity: ; Publications: 33729000; Phenotypes: Dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.; Mode of inheritance: Unknown
Paediatric pseudo-obstruction syndrome v0.1 ZEB2 Eleanor Williams gene: ZEB2 was added
gene: ZEB2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: ZEB2 was set to
Paediatric pseudo-obstruction syndrome v0.1 TYMP Eleanor Williams gene: TYMP was added
gene: TYMP was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: TYMP was set to
Paediatric pseudo-obstruction syndrome v0.1 TWNK Eleanor Williams gene: TWNK was added
gene: TWNK was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: TWNK was set to
Paediatric pseudo-obstruction syndrome v0.1 TTC7A Eleanor Williams gene: TTC7A was added
gene: TTC7A was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: TTC7A was set to
Paediatric pseudo-obstruction syndrome v0.1 TPM3 Eleanor Williams gene: TPM3 was added
gene: TPM3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: TPM3 was set to
Paediatric pseudo-obstruction syndrome v0.1 TK2 Eleanor Williams gene: TK2 was added
gene: TK2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: TK2 was set to
Paediatric pseudo-obstruction syndrome v0.1 SURF1 Eleanor Williams gene: SURF1 was added
gene: SURF1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: SURF1 was set to
Paediatric pseudo-obstruction syndrome v0.1 SUCLG1 Eleanor Williams gene: SUCLG1 was added
gene: SUCLG1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: SUCLG1 was set to
Paediatric pseudo-obstruction syndrome v0.1 SUCLA2 Eleanor Williams gene: SUCLA2 was added
gene: SUCLA2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: SUCLA2 was set to
Paediatric pseudo-obstruction syndrome v0.1 SOX10 Eleanor Williams gene: SOX10 was added
gene: SOX10 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: SOX10 was set to
Paediatric pseudo-obstruction syndrome v0.1 SGO1 Eleanor Williams gene: SGO1 was added
gene: SGO1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: SGO1 was set to
Paediatric pseudo-obstruction syndrome v0.1 SEMA3F Eleanor Williams gene: SEMA3F was added
gene: SEMA3F was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: SEMA3F was set to
Paediatric pseudo-obstruction syndrome v0.1 SDHA Eleanor Williams gene: SDHA was added
gene: SDHA was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: SDHA was set to
Paediatric pseudo-obstruction syndrome v0.1 SCN10A Eleanor Williams gene: SCN10A was added
gene: SCN10A was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: SCN10A was set to
Paediatric pseudo-obstruction syndrome v0.1 RRM2B Eleanor Williams gene: RRM2B was added
gene: RRM2B was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: RRM2B was set to
Paediatric pseudo-obstruction syndrome v0.1 RET Eleanor Williams gene: RET was added
gene: RET was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: RET was set to
Paediatric pseudo-obstruction syndrome v0.1 RAD21 Eleanor Williams gene: RAD21 was added
gene: RAD21 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: RAD21 was set to
Paediatric pseudo-obstruction syndrome v0.1 PROKR2 Eleanor Williams gene: PROKR2 was added
gene: PROKR2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: PROKR2 was set to
Paediatric pseudo-obstruction syndrome v0.1 PROKR1 Eleanor Williams gene: PROKR1 was added
gene: PROKR1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: PROKR1 was set to
Paediatric pseudo-obstruction syndrome v0.1 PROK1 Eleanor Williams gene: PROK1 was added
gene: PROK1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: PROK1 was set to
Paediatric pseudo-obstruction syndrome v0.1 POLG Eleanor Williams gene: POLG was added
gene: POLG was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: POLG was set to
Paediatric pseudo-obstruction syndrome v0.1 PHOX2B Eleanor Williams gene: PHOX2B was added
gene: PHOX2B was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: PHOX2B was set to
Paediatric pseudo-obstruction syndrome v0.1 PDCL3 Eleanor Williams gene: PDCL3 was added
gene: PDCL3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: PDCL3 was set to
Paediatric pseudo-obstruction syndrome v0.1 NRTN Eleanor Williams gene: NRTN was added
gene: NRTN was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: NRTN was set to
Paediatric pseudo-obstruction syndrome v0.1 NKX2-1 Eleanor Williams gene: NKX2-1 was added
gene: NKX2-1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: NKX2-1 was set to
Paediatric pseudo-obstruction syndrome v0.1 NDUFS1 Eleanor Williams gene: NDUFS1 was added
gene: NDUFS1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: NDUFS1 was set to
Paediatric pseudo-obstruction syndrome v0.1 MYLK Eleanor Williams gene: MYLK was added
gene: MYLK was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: MYLK was set to
Paediatric pseudo-obstruction syndrome v0.1 MYL9 Eleanor Williams gene: MYL9 was added
gene: MYL9 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: MYL9 was set to
Paediatric pseudo-obstruction syndrome v0.1 MYH11 Eleanor Williams gene: MYH11 was added
gene: MYH11 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: MYH11 was set to
Paediatric pseudo-obstruction syndrome v0.1 MPV17 Eleanor Williams gene: MPV17 was added
gene: MPV17 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: MPV17 was set to
Paediatric pseudo-obstruction syndrome v0.1 LMOD1 Eleanor Williams gene: LMOD1 was added
gene: LMOD1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: LMOD1 was set to
Paediatric pseudo-obstruction syndrome v0.1 LIG3 Eleanor Williams gene: LIG3 was added
gene: LIG3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: LIG3 was set to
Paediatric pseudo-obstruction syndrome v0.1 L1CAM Eleanor Williams gene: L1CAM was added
gene: L1CAM was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: L1CAM was set to
Paediatric pseudo-obstruction syndrome v0.1 KIF26A Eleanor Williams gene: KIF26A was added
gene: KIF26A was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: KIF26A was set to
Paediatric pseudo-obstruction syndrome v0.1 GFRA1 Eleanor Williams gene: GFRA1 was added
gene: GFRA1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: GFRA1 was set to
Paediatric pseudo-obstruction syndrome v0.1 GDNF Eleanor Williams gene: GDNF was added
gene: GDNF was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: GDNF was set to
Paediatric pseudo-obstruction syndrome v0.1 FOCAD Eleanor Williams gene: FOCAD was added
gene: FOCAD was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: FOCAD was set to
Paediatric pseudo-obstruction syndrome v0.1 FLNA Eleanor Williams gene: FLNA was added
gene: FLNA was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: FLNA was set to
Paediatric pseudo-obstruction syndrome v0.1 ERBB3 Eleanor Williams gene: ERBB3 was added
gene: ERBB3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: ERBB3 was set to
Paediatric pseudo-obstruction syndrome v0.1 ERBB2 Eleanor Williams gene: ERBB2 was added
gene: ERBB2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: ERBB2 was set to
Paediatric pseudo-obstruction syndrome v0.1 EDNRB Eleanor Williams gene: EDNRB was added
gene: EDNRB was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: EDNRB was set to
Paediatric pseudo-obstruction syndrome v0.1 EDN3 Eleanor Williams gene: EDN3 was added
gene: EDN3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: EDN3 was set to
Paediatric pseudo-obstruction syndrome v0.1 ECE1 Eleanor Williams gene: ECE1 was added
gene: ECE1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: ECE1 was set to
Paediatric pseudo-obstruction syndrome v0.1 DLX2 Eleanor Williams gene: DLX2 was added
gene: DLX2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: DLX2 was set to
Paediatric pseudo-obstruction syndrome v0.1 DLX1 Eleanor Williams gene: DLX1 was added
gene: DLX1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: DLX1 was set to
Paediatric pseudo-obstruction syndrome v0.1 DGUOK Eleanor Williams gene: DGUOK was added
gene: DGUOK was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: DGUOK was set to
Paediatric pseudo-obstruction syndrome v0.1 DDX3X Eleanor Williams gene: DDX3X was added
gene: DDX3X was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: DDX3X was set to
Paediatric pseudo-obstruction syndrome v0.1 COX15 Eleanor Williams gene: COX15 was added
gene: COX15 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: COX15 was set to
Paediatric pseudo-obstruction syndrome v0.1 COX10 Eleanor Williams gene: COX10 was added
gene: COX10 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: COX10 was set to
Paediatric pseudo-obstruction syndrome v0.1 CHRNE Eleanor Williams gene: CHRNE was added
gene: CHRNE was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: CHRNE was set to
Paediatric pseudo-obstruction syndrome v0.1 C17orf107 Eleanor Williams gene: C17orf107 was added
gene: C17orf107 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: C17orf107 was set to
Paediatric pseudo-obstruction syndrome v0.1 BCS1L Eleanor Williams gene: BCS1L was added
gene: BCS1L was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: BCS1L was set to
Paediatric pseudo-obstruction syndrome v0.1 BCR Eleanor Williams gene: BCR was added
gene: BCR was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: BCR was set to
Paediatric pseudo-obstruction syndrome v0.1 ACTG2 Eleanor Williams gene: ACTG2 was added
gene: ACTG2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: ACTG2 was set to
Paediatric pseudo-obstruction syndrome v0.1 ACTA2 Eleanor Williams gene: ACTA2 was added
gene: ACTA2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list
Mode of inheritance for gene: ACTA2 was set to
Paediatric pseudo-obstruction syndrome v0.0 Eleanor Williams Added Panel Paediatric pseudo-obstruction syndrome