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| Rare anaemia v1.32 | LPIN2 | Arina Puzriakova Phenotypes for gene: LPIN2 were changed from Majeed syndrome, 609628; Microcytic anemia; Congenital dyserythropoietic anemia; CDA; 609628 Majeed syndrome; Majeed syndrome; 609628 Microcytic anemia to Majeed syndrome, OMIM:609628; Microcytic anemia; Congenital dyserythropoietic anemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.37 | LPIN2 | Louise Daugherty Classified gene: LPIN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.37 | LPIN2 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.37 | LPIN2 | Louise Daugherty Gene: lpin2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.36 | LPIN2 | Louise Daugherty commented on gene: LPIN2: Discrepant reviews, to be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | LPIN2 | Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome, 609628; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | LPIN2 | Steve Keeney reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcytic anemia, Congenital dyserythropoietic anemia, CDA, Majeed syndrome, 609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | LPIN2 | Louise Daugherty Added phenotypes Majeed syndrome, 609628; CDA; Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | LPIN2 | Louise Daugherty Source North West GLH was added to LPIN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | LPIN2 | Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609628 Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | LPIN2 | Mandy nesbitt reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 609628 Microcytic anemia, Congenital dyserythropoietic anemia, CDA, Majeed syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | LPIN2 | Louise Daugherty Added phenotypes Majeed syndrome; CDA; 609628 Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | LPIN2 | Louise Daugherty Source Yorkshire and North East GLH was added to LPIN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | LPIN2 | Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609628 Majeed syndrome; PMID(s): 15994876; 17330256 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | LPIN2 | Frances Smith reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15994876, 17330256 ; Phenotypes: 609628 Majeed syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | LPIN2 |
Louise Daugherty Added phenotypes 609628 Majeed syndrome for gene: LPIN2 Publications for gene LPIN2 were changed from 11795677; 17330256; 2809904; 10969284; 23087183 to 17330256; 15994876 |
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| Rare anaemia v0.7 | LPIN2 | Louise Daugherty Source London South GLH was added to LPIN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | LPIN2 | Louise Daugherty reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | LPIN2 | Carl Fratter reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | LPIN2 | Louise Daugherty Source NHS GMS was added to LPIN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | LPIN2 |
Louise Daugherty Source Expert Review Green was added to LPIN2. Mode of inheritance for gene LPIN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Majeed syndrome, 609628; CDA; Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2 Publications for gene LPIN2 were changed from to 11795677; 17330256; 2809904; 10969284; 23087183 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | LPIN2 |
Louise Daugherty gene: LPIN2 was added gene: LPIN2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LPIN2 was set to |
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