Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.2 | MAB21L1 |
Achchuthan Shanmugasundram changed review comment from: PMID:27103078 (2017) reported the identification of a homozygous frameshift variant in MAB21L1 gene (p.Cys246Leufs*18) in a boy with scrotum agensis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global developmental delay. Ocular anomalies included nystagmus, convergent strabismus and corneal dystrophy. There is also functional evidence available from knockout mice which presented a similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. PMID:30487245 (2019) reported the identification of four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Ocular features included horizontal nystagmus, bilateral corneal opacities/ corneal dystrophy, strabismus and retinal degeneration. PMID:33973683 (2021) reported a heterozygous novel variant in MAB21L1 gene (c.152G>T/ p.Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance (c.184C>T/ p.Arg62Cys; c.-68T>C and c.658G>C/ p.Gly220Arg; c.*529A>G) in two additional probands with microphthalmia, coloboma and/or cataracts. There is also function evidence available from in vitro studies of coding variants and in vivo complementation assays using the zebrafish mab21l2 Q48Sfs*5 loss-of-function line. PMID:36413568 (2022) reported nine patients from five families with severe aniridia and/or microphthalmia with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. The detected variants are c.152G>A/ p.Arg51Gln, c.152G>T/ p.Arg51Leu, c.152G>C/ p.Arg51Pro and c.155T>G/ p.Phe52Cys. Mice engineered to carry the p.Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes. PMID:36446583 (2023) reported the identification of a novel missense variant (p.Phe52Leu) in a three-generation pedigree with autosomal dominant microphthalmia. PMID:36892533 (2023) reported the identification of three heterozygous missense variants in MAB21L1 gene in five unrelated families, including c.152G>T/ p.Arg51Leu in two, c.152G>A/ p.Arg51Gln in two, and c.155T>G/ p.Phe52Cys in one. All patients presented with similar blepharophimosis plus anterior segment and macular dysgenesis (BAMD) phenotype. PMID:39016008 (2024) reported an additional family with four individuals diagnosed with microphthalmia and with Arg51 variant in MAB21L1 gene. Sources: Literature; to: PMID:27103078 (2017) reported the identification of a homozygous frameshift variant in MAB21L1 gene (p.Cys246Leufs*18) in a boy with scrotum agensis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global developmental delay. Ocular anomalies included nystagmus, convergent strabismus and corneal dystrophy. There is also functional evidence available from knockout mice which presented a similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. PMID:30487245 (2019) reported the identification of four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Ocular features included horizontal nystagmus, bilateral corneal opacities/ corneal dystrophy, strabismus and retinal degeneration. PMID:33973683 (2021) reported a heterozygous novel variant in MAB21L1 gene (c.152G>T/ p.Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance (c.184C>T/ p.Arg62Cys; c.-68T>C and c.658G>C/ p.Gly220Arg; c.*529A>G) in two additional probands with microphthalmia, coloboma and/or cataracts. There is also function evidence available from in vitro studies of coding variants and in vivo complementation assays using the zebrafish mab21l2 Q48Sfs*5 loss-of-function line. PMID:36413568 (2022) reported nine patients from five families with severe aniridia and/or microphthalmia with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. The detected variants are c.152G>A/ p.Arg51Gln, c.152G>T/ p.Arg51Leu, c.152G>C/ p.Arg51Pro and c.155T>G/ p.Phe52Cys. Mice engineered to carry the p.Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes. PMID:36446583 (2023) reported the identification of a novel missense variant (p.Phe52Leu) in a three-generation pedigree with autosomal dominant microphthalmia. PMID:36892533 (2023) reported the identification of three heterozygous missense variants in MAB21L1 gene in five unrelated families, including c.152G>T/ p.Arg51Leu in two, c.152G>A/ p.Arg51Gln in two, and c.155T>G/ p.Phe52Cys in one. All patients presented with similar blepharophimosis plus anterior segment and macular dysgenesis (BAMD) phenotype. PMID:39016008 (2024) reported an additional family with four individuals diagnosed with microphthalmia and with Arg51 variant in MAB21L1 gene. Only biallelic variants in this gene are associated with relevant phenotypes in OMIM (MIM #618479, last accessed 12 May 2026), Gene2Phenotype (with 'definitive' rating on the DD and Eye panels) and ClinGen (Strong rating by Syndromic disorders Expert panel - https://search.clinicalgenome.org/CCID:008388). However, only monoallelic variants are associated with phenotypes relevant to this panel. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.2 | MAB21L1 |
Achchuthan Shanmugasundram changed review comment from: PMID:33973683 (2021) reported a heterozygous novel variant in MAB21L1 gene (c.152G>T/ p.Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance (c.184C>T/ p.Arg62Cys; c.-68T>C and c.658G>C/ p.Gly220Arg; c.*529A>G) in two additional probands with microphthalmia, coloboma and/or cataracts. There is also function evidence available from in vitro studies of coding variants and in vivo complementation assays using the zebrafish mab21l2 Q48Sfs*5 loss-of-function line. PMID:36413568 (2022) reported nine patients from five families with severe aniridia and/or microphthalmia with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. The detected variants are c.152G>A/ p.Arg51Gln, c.152G>T/ p.Arg51Leu, c.152G>C/ p.Arg51Pro and c.155T>G/ p.Phe52Cys. Mice engineered to carry the p.Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes. PMID:36446583 (2023) reported the identification of a novel missense variant (p.Phe52Leu) in a three-generation pedigree with autosomal dominant microphthalmia. PMID:36892533 (2023) reported the identification of three heterozygous missense variants in MAB21L1 gene in five unrelated families, including c.152G>T/ p.Arg51Leu in two, c.152G>A/ p.Arg51Gln in two, and c.155T>G/ p.Phe52Cys in one. All patients presented with similar blepharophimosis plus anterior segment and macular dysgenesis (BAMD) phenotype. PMID:39016008 (2024) reported an additional family with four individuals diagnosed with microphthalmia and with Arg51 variant in MAB21L1 gene. Sources: Literature; to: PMID:27103078 (2017) reported the identification of a homozygous frameshift variant in MAB21L1 gene (p.Cys246Leufs*18) in a boy with scrotum agensis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global developmental delay. Ocular anomalies included nystagmus, convergent strabismus and corneal dystrophy. There is also functional evidence available from knockout mice which presented a similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. PMID:30487245 (2019) reported the identification of four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Ocular features included horizontal nystagmus, bilateral corneal opacities/ corneal dystrophy, strabismus and retinal degeneration. PMID:33973683 (2021) reported a heterozygous novel variant in MAB21L1 gene (c.152G>T/ p.Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance (c.184C>T/ p.Arg62Cys; c.-68T>C and c.658G>C/ p.Gly220Arg; c.*529A>G) in two additional probands with microphthalmia, coloboma and/or cataracts. There is also function evidence available from in vitro studies of coding variants and in vivo complementation assays using the zebrafish mab21l2 Q48Sfs*5 loss-of-function line. PMID:36413568 (2022) reported nine patients from five families with severe aniridia and/or microphthalmia with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. The detected variants are c.152G>A/ p.Arg51Gln, c.152G>T/ p.Arg51Leu, c.152G>C/ p.Arg51Pro and c.155T>G/ p.Phe52Cys. Mice engineered to carry the p.Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes. PMID:36446583 (2023) reported the identification of a novel missense variant (p.Phe52Leu) in a three-generation pedigree with autosomal dominant microphthalmia. PMID:36892533 (2023) reported the identification of three heterozygous missense variants in MAB21L1 gene in five unrelated families, including c.152G>T/ p.Arg51Leu in two, c.152G>A/ p.Arg51Gln in two, and c.155T>G/ p.Phe52Cys in one. All patients presented with similar blepharophimosis plus anterior segment and macular dysgenesis (BAMD) phenotype. PMID:39016008 (2024) reported an additional family with four individuals diagnosed with microphthalmia and with Arg51 variant in MAB21L1 gene. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.2 | MAB21L1 |
Achchuthan Shanmugasundram changed review comment from: PMID:33973683 (2021) reported a heterozygous novel variant in MAB21L1 gene (c.152G>T/ p.Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance (c.184C>T/ p.Arg62Cys; c.-68T>C and c.658G>C/ p.Gly220Arg; c.*529A>G) in two additional probands with microphthalmia, coloboma and/or cataracts. There is also function evidence available from in vitro studies of coding variants and in vivo complementation assays using the zebrafish mab21l2 Q48Sfs*5 loss-of-function line. PMID:36413568 (2022) reported nine patients from five families with severe aniridia and/or microphthalmia with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. The detected variants are c.152G>A/ p.Arg51Gln, c.152G>T/ p.Arg51Leu, c.152G>C/ p.Arg51Pro and c.155T>G/ p.Phe52Cys. Mice engineered to carry the p.Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes. PMID:36446583 (2023) reported the identification of a novel missense variant (p.Phe52Leu) in a three-generation pedigree with autosomal dominant microphthalmia. PMID:36892533 (2023) reported the identification of three heterozygous missense variants in MAB21L1 gene in five unrelated families, including c.152G>T/ p.Arg51Leu in two, c.152G>A/ p.Arg51Gln in two, and c.155T>G/ p.Phe52Cys in one. All patients presented with similar blepharophimosis plus anterior segment and macular dysgenesis (BAMD) phenotype. PMID:39016008 (2024) reported an additional family with four individuals diagnosed with microphthalmia and with Arg51 variant in MAB21L1 gene. Sources: Literature; to: PMID:33973683 (2021) reported a heterozygous novel variant in MAB21L1 gene (c.152G>T/ p.Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance (c.184C>T/ p.Arg62Cys; c.-68T>C and c.658G>C/ p.Gly220Arg; c.*529A>G) in two additional probands with microphthalmia, coloboma and/or cataracts. There is also function evidence available from in vitro studies of coding variants and in vivo complementation assays using the zebrafish mab21l2 Q48Sfs*5 loss-of-function line. PMID:36413568 (2022) reported nine patients from five families with severe aniridia and/or microphthalmia with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. The detected variants are c.152G>A/ p.Arg51Gln, c.152G>T/ p.Arg51Leu, c.152G>C/ p.Arg51Pro and c.155T>G/ p.Phe52Cys. Mice engineered to carry the p.Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes. PMID:36446583 (2023) reported the identification of a novel missense variant (p.Phe52Leu) in a three-generation pedigree with autosomal dominant microphthalmia. PMID:36892533 (2023) reported the identification of three heterozygous missense variants in MAB21L1 gene in five unrelated families, including c.152G>T/ p.Arg51Leu in two, c.152G>A/ p.Arg51Gln in two, and c.155T>G/ p.Phe52Cys in one. All patients presented with similar blepharophimosis plus anterior segment and macular dysgenesis (BAMD) phenotype. PMID:39016008 (2024) reported an additional family with four individuals diagnosed with microphthalmia and with Arg51 variant in MAB21L1 gene. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.2 | MAB21L1 |
Achchuthan Shanmugasundram gene: MAB21L1 was added gene: MAB21L1 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: MAB21L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAB21L1 were set to 33973683; 36413568; 36446583; 36892533; 39016008 Review for gene: MAB21L1 was set to GREEN Added comment: PMID:33973683 (2021) reported a heterozygous novel variant in MAB21L1 gene (c.152G>T/ p.Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance (c.184C>T/ p.Arg62Cys; c.-68T>C and c.658G>C/ p.Gly220Arg; c.*529A>G) in two additional probands with microphthalmia, coloboma and/or cataracts. There is also function evidence available from in vitro studies of coding variants and in vivo complementation assays using the zebrafish mab21l2 Q48Sfs*5 loss-of-function line. PMID:36413568 (2022) reported nine patients from five families with severe aniridia and/or microphthalmia with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. The detected variants are c.152G>A/ p.Arg51Gln, c.152G>T/ p.Arg51Leu, c.152G>C/ p.Arg51Pro and c.155T>G/ p.Phe52Cys. Mice engineered to carry the p.Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes. PMID:36446583 (2023) reported the identification of a novel missense variant (p.Phe52Leu) in a three-generation pedigree with autosomal dominant microphthalmia. PMID:36892533 (2023) reported the identification of three heterozygous missense variants in MAB21L1 gene in five unrelated families, including c.152G>T/ p.Arg51Leu in two, c.152G>A/ p.Arg51Gln in two, and c.155T>G/ p.Phe52Cys in one. All patients presented with similar blepharophimosis plus anterior segment and macular dysgenesis (BAMD) phenotype. PMID:39016008 (2024) reported an additional family with four individuals diagnosed with microphthalmia and with Arg51 variant in MAB21L1 gene. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | MAB21L2 | Nicola Ragge reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24906020, 25719200; Phenotypes: Microphthalmia, syndromic 14, 615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | MAB21L2 | Ivone Leong reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24906020, 25719200; Phenotypes: Microphthalmia, syndromic 14, 615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | MAB21L2 |
Ivone Leong Source NHS GMS was added to MAB21L2. Mode of pathogenicity for gene MAB21L2 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 14, 615877 for gene: MAB21L2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | MAB21L2 |
Ellen McDonagh gene: MAB21L2 was added gene: MAB21L2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAB21L2 were set to 24906020; 25719200 Phenotypes for gene: MAB21L2 were set to Microphthalmia, syndromic 14, 615877 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||