Activity
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70 actions
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| Hirschsprung disease v0.25 | KIF26A | Zornitza Stark Marked gene: KIF26A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.25 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.25 | KIF26A | Zornitza Stark Classified gene: KIF26A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.25 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.24 | KIF26A |
Belinda Chong changed review comment from: Two unrelated families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung’s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a−/− mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Sources: Literature; to: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia. |
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| Hirschsprung disease v0.24 | KIF26A |
Belinda Chong gene: KIF26A was added gene: KIF26A was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF26A were set to 36564622 Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Review for gene: KIF26A was set to GREEN gene: KIF26A was marked as current diagnostic Added comment: Two unrelated families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung’s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a−/− mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Sources: Literature |
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| Hirschsprung disease v0.24 | PMEL | Zornitza Stark Marked gene: PMEL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.24 | PMEL | Zornitza Stark Gene: pmel has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.24 | PMEL | Zornitza Stark Classified gene: PMEL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.24 | PMEL | Zornitza Stark Gene: pmel has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.23 | PMEL | Paul De Fazio edited their review of gene: PMEL: Changed phenotypes: Oculocutaneous albinism, PMEL-related MONDO:0018910 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.23 | PMEL |
Paul De Fazio gene: PMEL was added gene: PMEL was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: PMEL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMEL were set to 36166100 Phenotypes for gene: PMEL were set to Cculocutaneous albinism, PMEL-related MONDO:0018910 Review for gene: PMEL was set to RED gene: PMEL was marked as current diagnostic Added comment: A consanguineous family with oculocutaneous albinism and Hirschsprung disease was found to have a biallelic LoF variant in PMEL, which although NMD-predicted was found not to result in NMD by RT-PCR. Sources: Literature |
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| Hirschsprung disease v0.23 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.22 |
Zornitza Stark HPO terms changed from to Aganglionic megacolon, HP:0002251 List of related panels changed from to Aganglionic megacolon; HP:0002251 |
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| Hirschsprung disease v0.21 | RET | Zornitza Stark Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.21 | RET | Zornitza Stark Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.21 | RET | Zornitza Stark Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Hirschsprung disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.20 | RET | Zornitza Stark Publications for gene: RET were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.19 | RET | Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.18 | RET | Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.18 | RET | Teresa Zhao reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: Hirschsprung disease (HSCR), MIM#142623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.18 | ERBB3 | Zornitza Stark Phenotypes for gene: ERBB3 were changed from Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.17 | ERBB3 | Zornitza Stark edited their review of gene: ERBB3: Changed phenotypes: Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180, Complex neurocristinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.17 | ERBB3 | Zornitza Stark Phenotypes for gene: ERBB3 were changed from Hirschsprung disease; Arthrogryposis to Complex neurocristinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.16 | ERBB3 | Zornitza Stark Publications for gene: ERBB3 were set to 33720042 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.15 | ERBB3 | Zornitza Stark reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33497358; Phenotypes: Complex neurocristinopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.15 | ERBB3 | Zornitza Stark Phenotypes for gene: ERBB3 were changed from Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623 to Hirschsprung disease; Arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.14 | ZEB2 | Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.14 | ZEB2 | Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | L1CAM | Tiong Tan Marked gene: L1CAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | L1CAM | Tiong Tan Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | L1CAM | Tiong Tan reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 15148591, 9279760, 11857550, 22344793, 11897831; Phenotypes: Hirschsprung disease in L1CAM syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | ERBB3 | Alison Yeung Marked gene: ERBB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | ERBB3 | Alison Yeung Gene: erbb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | ERBB3 | Alison Yeung Classified gene: ERBB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | ERBB3 | Alison Yeung Gene: erbb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.12 | ERBB3 |
Teresa Zhao gene: ERBB3 was added gene: ERBB3 was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 33720042 Phenotypes for gene: ERBB3 were set to Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623 Review for gene: ERBB3 was set to GREEN Added comment: Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported. All reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis. Functional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors. Sources: Literature |
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| Hirschsprung disease v0.12 | ECE1 | Zornitza Stark Marked gene: ECE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.12 | ECE1 | Zornitza Stark Gene: ece1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.12 | ECE1 | Zornitza Stark Phenotypes for gene: ECE1 were changed from ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 to Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.11 | ECE1 |
Chirag Patel gene: ECE1 was added gene: ECE1 was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ECE1 were set to PMID: 9915973; 9449665; 9449664 Phenotypes for gene: ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 Review for gene: ECE1 was set to RED Added comment: 1 patient reported in 1999: skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities, other dysmorphic/digit features, and autonomic dysfunction. A heterozygous variant (R742C) was identified, but parents were not available for testing. The activity of the mutant ECE-1 was 4.7% of that of wild-type ECE-1. The variant was thought to lead to the phenotype by resulting in reduced levels of EDN1 and EDN3. Ece1−/− mice exhibit neonatal lethality due to craniofacial and cardiac defects identical to those seen in Edn1−/− mice. In addition, Ece1−/− newborns lack enteric ganglia in the terminal colons, so Ece1 knockout mice seem to present a combination of features characteristic for the Edn1 and Edn3 knockout mice. Sources: Literature |
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| Hirschsprung disease v0.10 | ZEB2 | Zornitza Stark Marked gene: ZEB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.10 | ZEB2 | Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.10 | ZEB2 | Zornitza Stark Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome (MIM#235730) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.9 | ZEB2 | Zornitza Stark Publications for gene: ZEB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.8 | ZEB2 | Zornitza Stark Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.7 | ZEB2 | Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384; Phenotypes: Mowat-Wilson syndrome (MIM#235730); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.7 | EDN3 | Zornitza Stark Marked gene: EDN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.7 | EDN3 | Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.7 | EDN3 | Zornitza Stark Phenotypes for gene: EDN3 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.6 | EDN3 | Zornitza Stark Publications for gene: EDN3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.5 | EDN3 | Zornitza Stark Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.4 | EDN3 | Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 9359047, 10231870, 30171849, 27370713; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880, Waardenburg syndrome, type 4B, MIM# 613265, {Hirschsprung disease, susceptibility to, 4}, MIM# 613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.4 | SMO | Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome , MIM#241800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark Marked gene: SMO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark Gene: smo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark Classified gene: SMO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark Gene: smo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.2 | SMO |
Zornitza Stark gene: SMO was added gene: SMO was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMO were set to 32413283 Phenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis Review for gene: SMO was set to GREEN Added comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis). Sources: Literature |
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| Hirschsprung disease v0.1 |
Zornitza Stark Panel name changed from Hirschsprung disease_VCGS to Hirschsprung disease Panel types changed to Victorian Clinical Genetics Services |
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| Hirschsprung disease v0.0 | ZEB2 |
Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZEB2 was set to Unknown |
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| Hirschsprung disease v0.0 | SOX10 |
Zornitza Stark gene: SOX10 was added gene: SOX10 was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX10 was set to Unknown |
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| Hirschsprung disease v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RET was set to Unknown |
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| Hirschsprung disease v0.0 | PHOX2B |
Zornitza Stark gene: PHOX2B was added gene: PHOX2B was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHOX2B was set to Unknown |
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| Hirschsprung disease v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: L1CAM was set to Unknown |
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| Hirschsprung disease v0.0 | KIF1BP |
Zornitza Stark gene: KIF1BP was added gene: KIF1BP was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF1BP was set to Unknown |
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| Hirschsprung disease v0.0 | EDNRB |
Zornitza Stark gene: EDNRB was added gene: EDNRB was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EDNRB was set to Unknown |
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| Hirschsprung disease v0.0 | EDN3 |
Zornitza Stark gene: EDN3 was added gene: EDN3 was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EDN3 was set to Unknown |
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| Hirschsprung disease v0.0 | Zornitza Stark Added panel Hirschsprung disease_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||