| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.0 | MACF1 | Gene migrated from ENSG00000127603 to ENSG00000127603 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4953 | MACF1 | Zornitza Stark Phenotypes for gene: MACF1 were changed from Lissencephaly 9 with complex brainstem malformation, MIM# 618325; Congenital myasthenic syndrome, MONDO:0018940, MACF1-related to Neurodevelopmental disorder (MONDO:0700092), MACF1-related; Lissencephaly 9 with complex brainstem malformation, MIM# 618325; Congenital myasthenic syndrome, MONDO:0018940, MACF1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4952 | MACF1 | Zornitza Stark Publications for gene: MACF1 were set to 30471716; 37721175; 30842214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4949 | MACF1 |
Lucy Spencer changed review comment from: Biallelic neurodevelopmental disorder GREEN: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense in the early NMD-escape region. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant Monoallelic neurodevelopmental disorder GREEN: There is a currently well established AD association with Lissencephaly 9 with complex brainstem malformation (MIM#618325) shown to have a GOF mechanism. 2 recent papers PMID: 40925378 Dekker J 2025 and PMID: 41629993 Xi J 2026 have recently reported at least 6 de novo NMD variants in individuals with a nonspecific neurodevelopmental disorder, including developmental delay/I in all and and epilepsy or macro/microcephaly in some. All variants are absent from gnomad. The pLI for this gene is 1 but there are quite a few NMD variants in gnomad with high het counts- however these cluster in exons 36-41 and exon 4 which are only coding in the MANE transcripts and not in other refseq transcripts or highly expressed transcripts in Gtex. The overlapping phenotype of the mono and biallelic neurodevelopmental disorders may be due to hypomorphic variants causing the biallelic disease, or there may be a correlation to do with the different isoforms of this gene or the location of the variants within the protein. Still a bit of uncertainty around these phenotypes due to the non-specific and variable phenotypes and limited functional validation but enough reports to call them green at this stage Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024.; to: Biallelic neurodevelopmental disorder GREEN: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense in the early NMD-escape region. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant Monoallelic neurodevelopmental disorder GREEN: There is a currently well established AD association with Lissencephaly 9 with complex brainstem malformation (MIM#618325) shown to have a GOF mechanism. 2 recent papers PMID: 40925378 Dekker J 2025 and PMID: 41629993 Xi J 2026 have recently reported at least 6 de novo NMD variants in individuals with a nonspecific neurodevelopmental disorder, including developmental delay in all and epilepsy or macro/microcephaly in some. All variants are absent from gnomad. The pLI for this gene is 1 but there are quite a few NMD variants in gnomad with high het counts- however these cluster in exons 36-41 and exon 4 which are only coding in the MANE transcripts and not in other refseq transcripts or highly expressed transcripts in Gtex. The overlapping phenotype of the mono and biallelic neurodevelopmental disorders may be due to hypomorphic variants causing the biallelic disease, or there may be a correlation to do with the different isoforms of this gene or the location of the variants within the protein. Still a bit of uncertainty around these phenotypes due to the non-specific and variable phenotypes and limited functional validation but enough reports to call them green at this stage Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024. |
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| Mendeliome v1.4946 | MACF1 |
Lucy Spencer changed review comment from: Biallelic neurodevelopmental disorder GREEN: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense in the early NMD-escape region. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant Monoallelic neurodevelopmental disorder GREEN: There is a currently well established AD association with Lissencephaly 9 with complex brainstem malformation (MIM#618325) shown to have a GOF mechanism. 2 recent papers PMID: 40925378 Dekker J 2025 and PMID: 41629993 Xi J 2026 have recently reported at least 6 de novo NMD variants in individuals with a nonspecific neurodevelopmental disorder, all are absent from gnomad. The pLI for this gene is 1 but there are quite a few NMD variants in gnomad with high het counts- however these cluster in exons 36-41 and exon 4 which are only coding in the MANE transcripts and not in other refseq transcripts or highly expressed transcripts in Gtex. The overlapping phenotype of the mono and biallelic neurodevelopmental disorders may be due to hypomorphic variants causing the biallelic disease, or there may be a correlation to do with the different isoforms of this gene or the location of the variants within the protein. Still a bit of uncertainty around these phenotypes due to the non-specific and variable phenotypes but enough reports to call them green at this stage Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024.; to: Biallelic neurodevelopmental disorder GREEN: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense in the early NMD-escape region. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant Monoallelic neurodevelopmental disorder GREEN: There is a currently well established AD association with Lissencephaly 9 with complex brainstem malformation (MIM#618325) shown to have a GOF mechanism. 2 recent papers PMID: 40925378 Dekker J 2025 and PMID: 41629993 Xi J 2026 have recently reported at least 6 de novo NMD variants in individuals with a nonspecific neurodevelopmental disorder, including developmental delay/I in all and and epilepsy or macro/microcephaly in some. All variants are absent from gnomad. The pLI for this gene is 1 but there are quite a few NMD variants in gnomad with high het counts- however these cluster in exons 36-41 and exon 4 which are only coding in the MANE transcripts and not in other refseq transcripts or highly expressed transcripts in Gtex. The overlapping phenotype of the mono and biallelic neurodevelopmental disorders may be due to hypomorphic variants causing the biallelic disease, or there may be a correlation to do with the different isoforms of this gene or the location of the variants within the protein. Still a bit of uncertainty around these phenotypes due to the non-specific and variable phenotypes and limited functional validation but enough reports to call them green at this stage Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024. |
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| Mendeliome v1.4946 | MACF1 |
Lucy Spencer changed review comment from: Biallelic disease Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024. Neurodevelopmental disorder GREEN/AMBER: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant Mostly missense reported with no functional, not a specific or very consistent phenotype. Monoallelic: There is a currently well established AD association with Lissencephaly 9 with complex brainstem malformation (MIM#618325) shown to have a GOF mechanism. But 2 recent papers PMID: 40925378 Dekker J 2025 and PMID: 41629993 Xi J 2026 have recently reported at least 6 de novo NMD variants in individuals with a nonspecific neurodevelopmental disorder. The pLI for this gene is 1 but there are quite a few NMD variants in gnomad with high het counts- however these cluster in exons 36-41 and exon 4 which are only coding in the MANE transcripts and not in other refseq transcripts or highly expressed transcripts in Gtex. ; to: Biallelic neurodevelopmental disorder GREEN: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense in the early NMD-escape region. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant Monoallelic neurodevelopmental disorder GREEN: There is a currently well established AD association with Lissencephaly 9 with complex brainstem malformation (MIM#618325) shown to have a GOF mechanism. 2 recent papers PMID: 40925378 Dekker J 2025 and PMID: 41629993 Xi J 2026 have recently reported at least 6 de novo NMD variants in individuals with a nonspecific neurodevelopmental disorder, all are absent from gnomad. The pLI for this gene is 1 but there are quite a few NMD variants in gnomad with high het counts- however these cluster in exons 36-41 and exon 4 which are only coding in the MANE transcripts and not in other refseq transcripts or highly expressed transcripts in Gtex. The overlapping phenotype of the mono and biallelic neurodevelopmental disorders may be due to hypomorphic variants causing the biallelic disease, or there may be a correlation to do with the different isoforms of this gene or the location of the variants within the protein. Still a bit of uncertainty around these phenotypes due to the non-specific and variable phenotypes but enough reports to call them green at this stage Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024. |
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| Mendeliome v1.4935 | MACF1 |
Lucy Spencer changed review comment from: Biallelic disease Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024. Neurodevelopmental disorder GREEN: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant; to: Biallelic disease Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024. Neurodevelopmental disorder GREEN/AMBER: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant Mostly missense reported with no functional, not a specific or very consistent phenotype. Monoallelic: There is a currently well established AD association with Lissencephaly 9 with complex brainstem malformation (MIM#618325) shown to have a GOF mechanism. But 2 recent papers PMID: 40925378 Dekker J 2025 and PMID: 41629993 Xi J 2026 have recently reported at least 6 de novo NMD variants in individuals with a nonspecific neurodevelopmental disorder. The pLI for this gene is 1 but there are quite a few NMD variants in gnomad with high het counts- however these cluster in exons 36-41 and exon 4 which are only coding in the MANE transcripts and not in other refseq transcripts or highly expressed transcripts in Gtex. |
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| Mendeliome v1.4902 | MACF1 |
Lucy Spencer changed review comment from: Biallelic disease Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024. Neurodevelopmental disorder GREEN: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant; to: Biallelic disease Myasthenic syndrome AMBER: PMID: 30842214 Oury 2019 1 patient with myasthenic syndrome (ptosis, weakness of extraocular muscles and neck flexors and difficulty swallowing, onset in childhood chet missense p.Leu2208Phe p.Thr1799Ala (in MANE select Leu3768Phe Thr3359Ala). A 2nd patient with mild adult onset limb girdle myasthenic syndrome, homozygous for p.Val1563Met (in MANE select: Val3123Met) also reported in PMID: 37721175 Polavarapu 2024. Neurodevelopmental disorder GREEN: PMID: 40925378; Dekker 2025- biallelic patients with a neurodevelopmental disorder. 9 unrelated patients across the main paper and supplementary data, all but 1 have homozygous or compound heterozygous missense spread across the gene, 1 has a homozygous nonsense. All have some degree of ID or developmental delay with variable additional features including microcephaly, hypotonia, muscle weakness, ataxia, or hypomyelination. The majority of their variants are in the plankin domain which is very large p.583-1533, however this is a mix of both recessive and dominant variants. Almost all of the missense are rare in gnomad however one p.Leu1349Met has over 1000 hets and 2 homs. Also in this papers supplementary data is a review of other biallelic cases in the literature. all but 1 have compound het missense scattered across the gene PMID: 24476948 1 with fetal akinesia PMID: 32010038 1 with spastic tetraplegia, dystonia, joint contracture, feeding difficulty and dev delay PMID: 33600046 3 patients; proximal and distal limb atrophy and weakness in one, axonal polyneuropathy with exotropia in another, and infantile muscular atrophy and weakness in the 3rd. PMID: 29667327 1 with West syndrome PMID: 297066461 with corpus callosum hypoplasia. this individual has a chet missense and NMD variant |
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| Mendeliome v1.4902 | MACF1 | Lucy Spencer reviewed gene: MACF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842214, 37721175, 40925378, 33600046, 24476948, 32010038, 29667327, 297066461; Phenotypes: Congenital myasthenic syndrome, MONDO:0018940, MACF1-related, Neurodevelopmental disorder (MONDO:0700092), MACF1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3935 | MACF1 | Zornitza Stark Phenotypes for gene: MACF1 were changed from Lissencephaly 9 with complex brainstem malformation, MIM# 618325 to Lissencephaly 9 with complex brainstem malformation, MIM# 618325; Congenital myasthenic syndrome, MONDO:0018940, MACF1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3934 | MACF1 | Zornitza Stark Publications for gene: MACF1 were set to 30471716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3933 | MACF1 | Zornitza Stark Mode of pathogenicity for gene: MACF1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3932 | MACF1 | Zornitza Stark Mode of inheritance for gene: MACF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3931 | MACF1 | Zornitza Stark edited their review of gene: MACF1: Added comment: PMIDs 37721175 and 30842214: 3 individuals reported with bi-allelic variants in this gene and a myasthenic phenotype, two congenital, one adult. Some functional data supports association.; Changed publications: 30471716, 37721175, 30842214; Changed phenotypes: Lissencephaly 9 with complex brainstem malformation, MIM# 618325, Congenital myasthenic syndrome, MONDO:0018940, MACF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2269 | MACF1 | Zornitza Stark Marked gene: MACF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2269 | MACF1 | Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.950 | MACF1 | Zornitza Stark Classified gene: MACF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.950 | MACF1 | Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.949 | MACF1 |
Zornitza Stark gene: MACF1 was added gene: MACF1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MACF1 were set to 30471716 Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325 Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MACF1 was set to GREEN Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene. Sources: Expert list |
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