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Bilateral congenital or childhood onset cataracts v4.2 | LETM1 | Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v4.2 | LETM1 |
Sarah Leigh gene: LETM1 was added gene: LETM1 was added to Bilateral congenital or childhood onset cataracts. Sources: Expert Review,Expert Review Amber Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1. Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214; 33815143 Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 |
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Bilateral congenital or childhood onset cataracts v3.2 | CDK9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CDK9. Source NHS GMS was added to CDK9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Bilateral congenital or childhood onset cataracts v2.98 | CTDP1 | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | CTDP1 | Ivone Leong commented on gene: CTDP1: Submitted on behalf of NHS GMS "Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | ANAPC1 | Ivone Leong commented on gene: ANAPC1: Submitted on behalf of NHS GMS "Please note that there is a common deep intronic variant." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | CTDP1 | Ivone Leong commented on gene: CTDP1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | EED | Ivone Leong commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | GEMIN4 | Ivone Leong commented on gene: GEMIN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | SREBF1 | Ivone Leong commented on gene: SREBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | SLC16A12 | Ivone Leong commented on gene: SLC16A12: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | PIK3C2A | Ivone Leong commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | GFER | Ivone Leong commented on gene: GFER: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | ABHD12 | Ivone Leong commented on gene: ABHD12: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | POLG | Ivone Leong commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | PLOD3 | Ivone Leong commented on gene: PLOD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | NACC1 | Ivone Leong commented on gene: NACC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | INTS1 | Ivone Leong commented on gene: INTS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | COG4 | Ivone Leong commented on gene: COG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | ANAPC1 | Ivone Leong commented on gene: ANAPC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Please note that there is a common deep intronic variant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | ATAD3A | Ivone Leong commented on gene: ATAD3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. |