Activity
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| Laterality disorders and isomerism v4.9 | MNS1 | Ida Ertmanska Tag Q1_26_expert_review tag was added to gene: MNS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.9 | MNS1 |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. The laterality defect presented with incomplete penetrance, and the most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. However, incomplete penetrance is somewhat expected, as motile cilia defects result in randomization of left-right asymmetry (also possible to result in WT). A mouse model supports this hypothesis, as only 14/36 (39%) of Mns1 deficient mice presented with organ laterality defects. Of note, the association of this gene with primary ciliary dyskinesia (PCD) is Disputed in ClinGen. Due to incomplete penetrance and Disputed classification in ClinGen, this gene is recommended for promotion to Green if agreed under additional Expert Review.; to: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. The laterality defect presented with incomplete penetrance, and the most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. However, incomplete penetrance is somewhat expected, as motile cilia defects result in randomization of left-right asymmetry (also possible to result in WT). A mouse model supports this hypothesis, as only 14/36 (39%) of Mns1 deficient mice presented with organ laterality defects. Of note, the association of this gene with primary ciliary dyskinesia (PCD) is Disputed in ClinGen. Due to incomplete penetrance and Disputed classification in ClinGen, this gene will be recommended for promotion to Green if agreed under additional Expert Review. |
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| Laterality disorders and isomerism v4.9 | MNS1 |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. The laterality defect presented with incomplete penetrance, and the most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. However, incomplete penetrance is somewhat expected, as motile cilia defects result in randomization of left-right asymmetry (also possible to result in WT). A mouse model supports this hypothesis, as only 14/36 (39%) of Mns1 deficient mice presented with organ laterality defects. Of note, the association of this gene with primary ciliary dyskinesia (PCD) is Disputed in ClinGen. Due to incomplete penetrance and Disputed classification in ClinGen, this gene is recommended for promotion to Green with additional Expert Review.; to: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. The laterality defect presented with incomplete penetrance, and the most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. However, incomplete penetrance is somewhat expected, as motile cilia defects result in randomization of left-right asymmetry (also possible to result in WT). A mouse model supports this hypothesis, as only 14/36 (39%) of Mns1 deficient mice presented with organ laterality defects. Of note, the association of this gene with primary ciliary dyskinesia (PCD) is Disputed in ClinGen. Due to incomplete penetrance and Disputed classification in ClinGen, this gene is recommended for promotion to Green if agreed under additional Expert Review. |
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| Laterality disorders and isomerism v4.9 | MNS1 |
Ida Ertmanska Tag watchlist was removed from gene: MNS1. Tag Q1_26_promote_green tag was added to gene: MNS1. Tag Q1_26_NHS_review tag was added to gene: MNS1. |
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| Laterality disorders and isomerism v4.9 | MNS1 | Ida Ertmanska edited their review of gene: MNS1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.9 | MNS1 |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. The laterality defect presented with incomplete penetrance, and the most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. However, incomplete penetrance is somewhat expected, as motile cilia defects would mean laterality of organs is determined at random (also possible to result in WT). A mouse model supports this hypothesis, as only 14/36 (39%) of Mns1 deficient mice presented with organ laterality defects. Of note, the association of this gene with primary ciliary dyskinesia (PCD) is Disputed in ClinGen. Due to incomplete penetrance, this gene is recommended for promotion to Green with Expert Review. ; to: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. The laterality defect presented with incomplete penetrance, and the most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. However, incomplete penetrance is somewhat expected, as motile cilia defects result in randomization of left-right asymmetry (also possible to result in WT). A mouse model supports this hypothesis, as only 14/36 (39%) of Mns1 deficient mice presented with organ laterality defects. Of note, the association of this gene with primary ciliary dyskinesia (PCD) is Disputed in ClinGen. Due to incomplete penetrance and Disputed classification in ClinGen, this gene is recommended for promotion to Green with additional Expert Review. |
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| Laterality disorders and isomerism v4.9 | MNS1 |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. However, there is a number of confounding factors to highlight here. 7/9 families were reported to be consanguineous. 3 families were genotyped using a PCD gene panel only. The most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. The laterality defect presented with incomplete penetrance, although a mouse model supports this finding. Additionally, association of this gene with primary ciliary dyskinesia (PCD) - a primary finding for most cases described here - is Disputed in ClinGen. Due to some conflicting evidence present in literature, this gene can only be rated Amber for Laterality disorders and isomerism.; to: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. The laterality defect presented with incomplete penetrance, and the most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. However, incomplete penetrance is somewhat expected, as motile cilia defects would mean laterality of organs is determined at random (also possible to result in WT). A mouse model supports this hypothesis, as only 14/36 (39%) of Mns1 deficient mice presented with organ laterality defects. Of note, the association of this gene with primary ciliary dyskinesia (PCD) is Disputed in ClinGen. Due to incomplete penetrance, this gene is recommended for promotion to Green with Expert Review. |
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| Laterality disorders and isomerism v4.6 | MNS1 | Ida Ertmanska Publications for gene: MNS1 were set to 30148830; 31534215; 38920647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.5 | MNS1 | Ida Ertmanska edited their review of gene: MNS1: Changed publications to: 22396656, 30148830, 31534215, 38920647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.5 | MNS1 |
Ida Ertmanska changed review comment from: PMID: 38920647 Hjejj et al., 2024 Report of four affected individuals and a fetus with motile ciliopathy and biallelic variants in MNS1 (four families from Afghanistan, Egypt, and Kosovo). 2 families were confirmed to be consanguineous. 4/4 affected individuals presented with laterality defects, including one male individual with heterotaxia and complex congenital heart defects. One patient displayed a pronounced respiratory phenotype. Heterozygous family members were unaffected. Identified variants: c.724C>T, p.(Arg242*) - Highest MAF = 0.001176 (South Asian population, includes 1 homozygote, gnomAD v4) - likely too high to cause recessive disease. c.1084G>T, p.(Glu362*) - Highest MAF = 0.00003295 (South Asian population, no homozygotes, gnomAD v4). c.678_680del, p.(Glu226del) - Highest MAF = 0.00005104 (Admixed American, no homozygotes, gnomAD v4). Sequencing method: trio exome for 1 family; panel including 'all published PCD and motile ciliopathy-related genes' applied for 3 families. PMID: 31534215 Leslie et al., 2019 Situs inversus (SI) and male infertility present in multiple individuals in an extended Amish family - identified a biallelic frameshift variant in MNS1 [NM_018365.2: c.407_410del; p.(Glu136Glyfs*16)] - rare, MAF in gnomAD v4 = 0.000002545. WT and heterozygous family members were unaffected, while in homozygous individuals disease presented with incomplete penetrance (4/6 exhibited situs inversus and 2/6 - situs solitus, normal organ position). Seq method: genome-wide SNP mapping and WES. PMID: 30148830 Ta-Shma et al., 2018 Identified two recessive loss-of-function MNS1 mutations in five individuals from four consanguineous families: 1) homozygous nonsense mutation c.724T>C, p.(Arg242*) in four males with laterality defects and infertility - Turkish and Israeli origins; MAF as above, relatively common in general population 2) a homozygous nonsense mutation c.607C>T, p.(Gln203*) in MNS1 in one Israeli female with laterality defects and recurrent respiratory infections. Variant c.607C>T is rare (MAF = 0.000005937, gnomAD v4, no homoz). Patient additionally carried a homozygous mutation in DNAH5 - a known PCD gene; family members homozygous for the DNAH5 mutations but not the MNS1 variant also had PCD. The contribution of each gene cannot be decoupled. Sequencing method: linkage analysis & WES. This gene is associated with AR Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948 in OMIM (accessed 29th Oct 2025). Association between MNS1 and primary ciliary dyskinesia was classified as Disputed by ClinGen (Motile Ciliopathy GCEP, Sept 2022).; to: PMID: 38920647 Hjejj et al., 2024 Report of four affected individuals and a fetus with motile ciliopathy and biallelic variants in MNS1 (four families from Afghanistan, Egypt, and Kosovo). 2 families were confirmed to be consanguineous. 4/4 affected individuals presented with laterality defects, including one male individual with heterotaxia and complex congenital heart defects. One patient displayed a pronounced respiratory phenotype. Heterozygous family members were unaffected. Identified variants: c.724C>T, p.(Arg242*) - Highest MAF = 0.001176 (South Asian population, includes 1 homozygote, gnomAD v4) - likely too high to cause recessive disease. c.1084G>T, p.(Glu362*) - Highest MAF = 0.00003295 (South Asian population, no homozygotes, gnomAD v4). c.678_680del, p.(Glu226del) - Highest MAF = 0.00005104 (Admixed American, no homozygotes, gnomAD v4). Sequencing method: trio exome for 1 family; panel including 'all published PCD and motile ciliopathy-related genes' applied for 3 families. PMID: 31534215 Leslie et al., 2019 Situs inversus (SI) and male infertility present in multiple individuals in an extended Amish family - identified a biallelic frameshift variant in MNS1 [NM_018365.2: c.407_410del; p.(Glu136Glyfs*16)] - rare, MAF in gnomAD v4 = 0.000002545. WT and heterozygous family members were unaffected, while in homozygous individuals disease presented with incomplete penetrance (4/6 exhibited situs inversus and 2/6 - situs solitus, normal organ position). Seq method: genome-wide SNP mapping and WES. PMID: 30148830 Ta-Shma et al., 2018 Identified two recessive loss-of-function MNS1 mutations in five individuals from four consanguineous families: 1) homozygous nonsense mutation c.724T>C, p.(Arg242*) in four males with laterality defects and infertility - Turkish and Israeli origins; MAF as above, relatively common in general population 2) a homozygous nonsense mutation c.607C>T, p.(Gln203*) in MNS1 in one Israeli female with laterality defects and recurrent respiratory infections. Variant c.607C>T is rare (MAF = 0.000005937, gnomAD v4, no homoz). Patient additionally carried a homozygous mutation in DNAH5 - a known PCD gene; family members homozygous for the DNAH5 mutations but not the MNS1 variant also had PCD. The contribution of each gene cannot be decoupled. Sequencing method: linkage analysis & WES. Functional evidence: PMID: 22396656 Zhou et al., 2012 Mns1-deficient mice; phenotype: situs inversus in 8/36, left isomerism (heterotaxy) in 6/36 and situs solitus in 22/36 - supports incomplete penetrance of the laterality defect phenotype in humans. This gene is associated with AR Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948 in OMIM (accessed 29th Oct 2025). Association between MNS1 and primary ciliary dyskinesia was classified as Disputed by ClinGen (Motile Ciliopathy GCEP, Sept 2022). |
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| Laterality disorders and isomerism v4.5 | MNS1 |
Ida Ertmanska changed review comment from: PMID: 38920647 Hjejj et al., 2024 Report of four affected individuals and a fetus with motile ciliopathy and biallelic variants in MNS1 (four families from Afghanistan, Egypt, and Kosovo). 2 families were confirmed to be consanguineous. 4/4 affected individuals presented with laterality defects, including one male individual with heterotaxia and complex congenital heart defects. One patient displayed a pronounced respiratory phenotype. Heterozygous family members were unaffected. Identified variants: c.724C>T, p.(Arg242*) - Highest MAF = 0.001176 (South Asian population, includes 1 homozygote, gnomAD v4) - likely too high to cause recessive disease. c.1084G>T, p.(Glu362*) - Highest MAF = 0.00003295 (South Asian population, no homozygotes, gnomAD v4). c.678_680del, p.(Glu226del) - Highest MAF = 0.00005104 (Admixed American, no homozygotes, gnomAD v4). Sequencing method: trio exome for 1 family; panel including 'all published PCD and motile ciliopathy-related genes' applied for 3 families. PMID: 31534215 Leslie et al., 2019 Situs inversus (SI) and male infertility present in multiple individuals in an extended Amish family - identified a biallelic frameshift variant in MNS1 [NM_018365.2: c.407_410del; p.(Glu136Glyfs*16)] - rare, MAF in gnomAD v4 = 0.000002545. WT and heterozygous family members were unaffected, while in homozygous individuals disease presented with incomplete penetrance (4/6 exhibited situs inversus and 2/6 - situs solitus, normal organ position). Seq method: genome-wide SNP mapping and WES. PMID: 30148830 Ta-Shma et al., 2018 Identified two recessive loss-of-function MNS1 mutations in five individuals from four consanguineous families: 1) homozygous nonsense mutation c.724T>C, p.(Arg242*) in four males with laterality defects and infertility - Turkish and Israeli origins; MAF as above, relatively common in general population 2) a homozygous nonsense mutation c.607C>T, p.(Gln203*) in MNS1 in one Israeli female with laterality defects and recurrent respiratory infections. Variant c.607C>T is rare (MAF = 0.000005937, gnomAD v4, no homoz). Patient additionally carried a homozygous mutation in DNAH5 - a known PCD gene; family members homozygous for the DNAH5 mutations but not the MNS1 variant also had PCD. The contribution of each gene cannot be decoupled. Sequencing method: linkage analysis & WES. This gene is associated with AR Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 in OMIM (accessed 29th Oct 2025). Association between MNS1 and primary ciliary dyskinesia was classified as Disputed by ClinGen (Motile Ciliopathy GCEP, Sept 2022).; to: PMID: 38920647 Hjejj et al., 2024 Report of four affected individuals and a fetus with motile ciliopathy and biallelic variants in MNS1 (four families from Afghanistan, Egypt, and Kosovo). 2 families were confirmed to be consanguineous. 4/4 affected individuals presented with laterality defects, including one male individual with heterotaxia and complex congenital heart defects. One patient displayed a pronounced respiratory phenotype. Heterozygous family members were unaffected. Identified variants: c.724C>T, p.(Arg242*) - Highest MAF = 0.001176 (South Asian population, includes 1 homozygote, gnomAD v4) - likely too high to cause recessive disease. c.1084G>T, p.(Glu362*) - Highest MAF = 0.00003295 (South Asian population, no homozygotes, gnomAD v4). c.678_680del, p.(Glu226del) - Highest MAF = 0.00005104 (Admixed American, no homozygotes, gnomAD v4). Sequencing method: trio exome for 1 family; panel including 'all published PCD and motile ciliopathy-related genes' applied for 3 families. PMID: 31534215 Leslie et al., 2019 Situs inversus (SI) and male infertility present in multiple individuals in an extended Amish family - identified a biallelic frameshift variant in MNS1 [NM_018365.2: c.407_410del; p.(Glu136Glyfs*16)] - rare, MAF in gnomAD v4 = 0.000002545. WT and heterozygous family members were unaffected, while in homozygous individuals disease presented with incomplete penetrance (4/6 exhibited situs inversus and 2/6 - situs solitus, normal organ position). Seq method: genome-wide SNP mapping and WES. PMID: 30148830 Ta-Shma et al., 2018 Identified two recessive loss-of-function MNS1 mutations in five individuals from four consanguineous families: 1) homozygous nonsense mutation c.724T>C, p.(Arg242*) in four males with laterality defects and infertility - Turkish and Israeli origins; MAF as above, relatively common in general population 2) a homozygous nonsense mutation c.607C>T, p.(Gln203*) in MNS1 in one Israeli female with laterality defects and recurrent respiratory infections. Variant c.607C>T is rare (MAF = 0.000005937, gnomAD v4, no homoz). Patient additionally carried a homozygous mutation in DNAH5 - a known PCD gene; family members homozygous for the DNAH5 mutations but not the MNS1 variant also had PCD. The contribution of each gene cannot be decoupled. Sequencing method: linkage analysis & WES. This gene is associated with AR Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948 in OMIM (accessed 29th Oct 2025). Association between MNS1 and primary ciliary dyskinesia was classified as Disputed by ClinGen (Motile Ciliopathy GCEP, Sept 2022). |
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| Laterality disorders and isomerism v4.5 | MNS1 | Ida Ertmanska Phenotypes for gene: MNS1 were changed from Heterotaxy, visceral, 9, autosomal, with male infertility, 618948 to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM: 618948; situs inversus, MONDO:0010029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.4 | MNS1 | Ida Ertmanska edited their review of gene: MNS1: Changed phenotypes to: Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM: 618948, situs inversus, MONDO:0010029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.4 | MNS1 | Ida Ertmanska Publications for gene: MNS1 were set to 31534215; 30148830; 22396656 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.3 | MNS1 |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. However, there is a number of confounding factors to highlight here. 7/9 families were reported to be consanguineous. 3 families were genotyped using a PCD gene panel only. The most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. The laterality defect presented with incomplete penetrance, although a mouse model supports this finding. Due to some conflicting evidence present in literature, this gene can only be rated Amber for Laterality disorders and isomerism.; to: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. However, there is a number of confounding factors to highlight here. 7/9 families were reported to be consanguineous. 3 families were genotyped using a PCD gene panel only. The most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. The laterality defect presented with incomplete penetrance, although a mouse model supports this finding. Additionally, association of this gene with primary ciliary dyskinesia (PCD) - a primary finding for most cases described here - is Disputed in ClinGen. Due to some conflicting evidence present in literature, this gene can only be rated Amber for Laterality disorders and isomerism. |
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| Laterality disorders and isomerism v4.3 | MNS1 |
Ida Ertmanska edited their review of gene: MNS1: Added comment: Comment on list classification: There are at least 16 individuals from 9 families reported in literature with biallelic MNS1 variants and laterality defects. However, there is a number of confounding factors to highlight here. 7/9 families were reported to be consanguineous. 3 families were genotyped using a PCD gene panel only. The most commonly recurring variant in MNS1 has a relatively high allele frequency in the general population, including 1 homozygote in gnomAD. The laterality defect presented with incomplete penetrance, although a mouse model supports this finding. Due to some conflicting evidence present in literature, this gene can only be rated Amber for Laterality disorders and isomerism.; Changed publications to: 30148830, 31534215, 38920647; Changed phenotypes to: situs inversus, MONDO:0010029 |
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| Laterality disorders and isomerism v4.3 | MNS1 | Ida Ertmanska reviewed gene: MNS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38920647; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.3 | MNS1 | Karen Stals reviewed gene: MNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38920647; Phenotypes: Laterality defects, ciliopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.47 | MNS1 | Ivone Leong Tag watchlist tag was added to gene: MNS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.47 | MNS1 | Ivone Leong Tag for-review was removed from gene: MNS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.47 | MNS1 | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Limited evidence, two studies, would prefer more evidence for upgrading to green.; to: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.47 | MNS1 | Ivone Leong commented on gene: MNS1: Submitted on behalf of NHS GMS "Limited evidence, two studies, would prefer more evidence for upgrading to green." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.47 | MNS1 | Ivone Leong commented on gene: MNS1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Limited evidence, two studies, would prefer more evidence for upgrading to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.11 | MNS1 | Ivone Leong Classified gene: MNS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.11 | MNS1 | Ivone Leong Added comment: Comment on list classification: This gene has been added as an Amber gene and will be promoted to a Green gene at the next major update. It has been tagged with "for-review". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.11 | MNS1 | Ivone Leong Gene: mns1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.10 | MNS1 | Ivone Leong reviewed gene: MNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.10 | MNS1 | Ivone Leong Tag for-review tag was added to gene: MNS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.10 | MNS1 | Ivone Leong Publications for gene: MNS1 were set to 31534215; 30148830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.9 | MNS1 | Ivone Leong Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy, visceral, 9, autosomal, with male infertility, 618948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.5 | MNS1 |
Zornitza Stark gene: MNS1 was added gene: MNS1 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNS1 were set to 31534215; 30148830 Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility Review for gene: MNS1 was set to GREEN gene: MNS1 was marked as current diagnostic Added comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated. Sources: Literature |
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