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Bilateral congenital or childhood onset cataracts v6.5 GEMIN4 Arina Puzriakova Source NHS GMS was added to GEMIN4.
Source Expert Review Green was added to GEMIN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v6.5 FOSL2 Arina Puzriakova Source NHS GMS was added to FOSL2.
Source Expert Review Green was added to FOSL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v5.3 LIM2 Sarah Leigh Source NHS GMS was added to LIM2.
Mode of inheritance for gene LIM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v4.13 LETM1 Arina Puzriakova Source NHS GMS was added to LETM1.
Source Expert Review Green was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v4.13 EPHA2 Arina Puzriakova Source NHS GMS was added to EPHA2.
Mode of inheritance for gene EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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)
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.