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| Holoprosencephaly and septo-optic dysplasia v1.16 | CNOT1 | Zornitza Stark Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.16 | CNOT1 | Zornitza Stark Phenotypes for gene: CNOT1 were changed from HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500 to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.15 | CNOT1 | Zornitza Stark Classified gene: CNOT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.15 | CNOT1 | Zornitza Stark Gene: cnot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.14 | CNOT1 | Zornitza Stark edited their review of gene: CNOT1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.14 | CNOT1 |
Zornitza Stark edited their review of gene: CNOT1: Added comment: LIMITED by ClinGen for holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787 ClinGen curation: CNOT1 was originally reported in cases of holoprosencephaly and/or pancreatic agenesis/insufficiency in 2019 (PMID: 31006513, 31006510). One of the papers included 3 individuals with heterozygous p.Arg535Cys (PMID: 31006513), confirmed to be de novo in 2 individuals. One of these individuals was not scored due to a lack of documentation of holoprosencephaly. The other paper included 2 individuals with de novo p.Arg535Cys, both of whom with holoprosencephaly. A knock-in mouse model of this variant showed neurological and pancreatic abnormalities at E14.5, and this evidence was used to augment the genetic evidence. A mouse brain expression study (PMID: 31006510) was scored as functional evidence. In total, there is Limited evidence to support the gene-disease relationship between CNOT1 and holoprosencephaly with or without pancreatic agenesis. Of note, this gene has also been implicated in Vissers-Bodmer syndrome, which is characterized by global developmental delay and behavioral abnormalities apparent from infancy. As the condition is clinically distinct from holoprosencephaly and/or pancreatic agenesis/insufficiency, lacks specific structural brain anomalies, and likely has different molecular mechanisms, this will be/have been assessed separately.; Changed phenotypes: Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 |
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| Holoprosencephaly and septo-optic dysplasia v0.8 | CNOT1 | Alison Yeung Marked gene: CNOT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v0.8 | CNOT1 | Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v0.8 | CNOT1 | Alison Yeung Classified gene: CNOT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v0.8 | CNOT1 | Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v0.7 | CNOT1 |
Alison Yeung gene: CNOT1 was added gene: CNOT1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT1 were set to PMID: 31006513 Phenotypes for gene: CNOT1 were set to HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500 Review for gene: CNOT1 was set to GREEN gene: CNOT1 was marked as current diagnostic Added comment: Three unrelated individuals reported. Functional studies in mouse Sources: Literature |
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