| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.13269 | PLEKHM1 | Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from Osteopetrosis, autosomal dominant 3, MIM# 618107 to Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13268 | PLEKHM1 | Zornitza Stark Publications for gene: PLEKHM1 were set to 27291868; 21054159; 17997709; 17404618 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13267 | PLEKHM1 | Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13266 | PLEKHM1 | Zornitza Stark edited their review of gene: PLEKHM1: Changed publications: 27291868, 21054159, 17997709, 17404618, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107, Osteopetrosis, autosomal recessive 6 , MIM# 611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13266 | PLEKHM1 | Zornitza Stark Marked gene: PLEKHM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13266 | PLEKHM1 | Zornitza Stark Gene: plekhm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13266 | PLEKHM1 | Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from to Osteopetrosis, autosomal dominant 3, MIM# 618107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13265 | PLEKHM1 | Zornitza Stark Publications for gene: PLEKHM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13264 | PLEKHM1 | Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13263 | PLEKHM1 | Zornitza Stark reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27291868, 21054159, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7938 | PLEKHN1 | Zornitza Stark Marked gene: PLEKHN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7938 | PLEKHN1 | Zornitza Stark Gene: plekhn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7938 | PLEKHN1 |
Zornitza Stark gene: PLEKHN1 was added gene: PLEKHN1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHN1 were set to 33884296 Phenotypes for gene: PLEKHN1 were set to Sensory Neuropathy Review for gene: PLEKHN1 was set to RED Added comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation Sources: Literature |
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| Mendeliome v0.7696 | PLEKHG5 | Zornitza Stark Marked gene: PLEKHG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7696 | PLEKHG5 | Zornitza Stark Gene: plekhg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7696 | PLEKHG5 | Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from to Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7695 | PLEKHG5 | Zornitza Stark Publications for gene: PLEKHG5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7694 | PLEKHG5 | Zornitza Stark Mode of inheritance for gene: PLEKHG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7693 | PLEKHG5 | Zornitza Stark reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564964, 23777631, 23844677, 33492783, 33275839, 33220101, 23777631; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6131 | PLEKHA7 | Zornitza Stark Marked gene: PLEKHA7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6131 | PLEKHA7 | Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6131 | PLEKHA7 | Zornitza Stark Phenotypes for gene: PLEKHA7 were changed from to Cleft lip and palate | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6130 | PLEKHA7 | Zornitza Stark Publications for gene: PLEKHA7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6129 | PLEKHA7 | Zornitza Stark Mode of inheritance for gene: PLEKHA7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6128 | PLEKHA7 | Zornitza Stark Classified gene: PLEKHA7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6128 | PLEKHA7 | Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6127 | PLEKHA7 | Zornitza Stark reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip and palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3208 | PLEK | Zornitza Stark Marked gene: PLEK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3208 | PLEK | Zornitza Stark Gene: plek has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3208 | PLEK | Zornitza Stark Classified gene: PLEK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3208 | PLEK | Zornitza Stark Gene: plek has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3202 | PPP3R1 |
Eleanor Williams gene: PPP3R1 was added gene: PPP3R1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PPP3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP3R1 were set to 32337552; 19159392 Phenotypes for gene: PPP3R1 were set to Deafness, autosomal dominant 58 MIM#615654 Review for gene: PPP3R1 was set to RED Added comment: PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392). The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members. Sources: Literature |
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| Mendeliome v0.3202 | PLEK |
Eleanor Williams gene: PLEK was added gene: PLEK was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PLEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLEK were set to 32337552; 19159392 Phenotypes for gene: PLEK were set to Deafness, autosomal dominant 58 MIM#615654 Review for gene: PLEK was set to RED Added comment: PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392). The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members. Sources: Literature |
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| Mendeliome v0.3202 | CNRIP1 |
Eleanor Williams gene: CNRIP1 was added gene: CNRIP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CNRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNRIP1 were set to 32337552; 19159392 Phenotypes for gene: CNRIP1 were set to Deafness, autosomal dominant 58 MIM#615654 Review for gene: CNRIP1 was set to RED Added comment: PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392). The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members. Sources: Literature |
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| Mendeliome v0.1899 | PLEKHA5 | Zornitza Stark Classified gene: PLEKHA5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1899 | PLEKHA5 | Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1898 | PLEKHA5 | Zornitza Stark reviewed gene: PLEKHA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: cleft lip, cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1896 | PLEKHA5 | Tiong Tan Marked gene: PLEKHA5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1896 | PLEKHA5 | Tiong Tan Gene: plekha5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1896 | PLEKHA5 |
Tiong Tan gene: PLEKHA5 was added gene: PLEKHA5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLEKHA5 were set to 29805042 Phenotypes for gene: PLEKHA5 were set to cleft lip; cleft palate Penetrance for gene: PLEKHA5 were set to Complete Review for gene: PLEKHA5 was set to GREEN Added comment: Sources: Literature |
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| Mendeliome v0.1348 | PLEKHG2 | Zornitza Stark Classified gene: PLEKHG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1348 | PLEKHG2 | Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1347 | PLEKHG2 | Zornitza Stark edited their review of gene: PLEKHG2: Added comment: Further family identified, promote to Amber.; Changed rating: AMBER; Changed publications: 26539891, 24001768, 26573021; Changed phenotypes: Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.667 | PLEKHG2 | Zornitza Stark Marked gene: PLEKHG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.667 | PLEKHG2 | Zornitza Stark Gene: plekhg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.667 | PLEKHG2 |
Zornitza Stark gene: PLEKHG2 was added gene: PLEKHG2 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG2 were set to 26573021 Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763 Review for gene: PLEKHG2 was set to RED Added comment: Five individuals from two unrelated families reported, same homozygous missense variant. Sources: Expert list |
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| Mendeliome v0.0 | PLEKHM1 |
Zornitza Stark gene: PLEKHM1 was added gene: PLEKHM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLEKHM1 was set to Unknown |
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| Mendeliome v0.0 | PLEKHG5 |
Zornitza Stark gene: PLEKHG5 was added gene: PLEKHG5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLEKHG5 was set to Unknown |
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| Mendeliome v0.0 | PLEKHA7 |
Zornitza Stark gene: PLEKHA7 was added gene: PLEKHA7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLEKHA7 was set to Unknown |
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