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| Bilateral congenital or childhood onset cataracts v6.4 | ADD3 |
Eleanor Williams gene: ADD3 was added gene: ADD3 was added to Bilateral congenital or childhood onset cataracts. Sources: Literature Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to 29768408 Phenotypes for gene: ADD3 were set to cataract, MONDO:0005129; Cataract, HP:0000518 Review for gene: ADD3 was set to RED Added comment: PMID: 29768408 - Gonçalves et al 2018 reports 1 proband with childhood onset bilateral cataracts as part of a syndromic presentation including intellectual disability, microcephaly and skeletal defects. WES identified ADD3 compound heterozygous variants - c.86A>G, p.N29S; c.1588G>A, p.V530I (both on the same allele in the mother), c.995A>G, p.N332S (heterozygous in the father). They also report an additional 3 siblings in another family with both ADD3 and KAT2B variants also presented with bilateral cataracts from early childhood along with further syndromic features of ID, skeletal defects, cardiac and renal abnormalities. Sources: Literature |
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| Bilateral congenital or childhood onset cataracts v6.3 | KAT2B |
Eleanor Williams changed review comment from: 1 case with homozygous variants in KAT2B with 2 siblings treated for bilateral cataracts in early childhood, along with a renal phenotype. An additional case where 3 siblings had bilateral cataracts either from birth or in early childhood but were an additional potentially pathogenic variant was found in the ADD gene. PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified. PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only. Sources: Literature; to: 1 case with homozygous variants in KAT2B with 2 siblings treated for bilateral cataracts in early childhood, along with a renal phenotype which develops later in childhood. An additional case where 3 siblings had bilateral cataracts either from birth or in early childhood but were an additional potentially pathogenic variant was found in the ADD gene. PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified. PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only. Sources: Literature |
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| Bilateral congenital or childhood onset cataracts v6.2 | KAT2B |
Eleanor Williams gene: KAT2B was added gene: KAT2B was added to Bilateral congenital or childhood onset cataracts. Sources: Literature Mode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KAT2B were set to 39366742; 29768408 Phenotypes for gene: KAT2B were set to cataract, MONDO:0005129; Cataract, HP:0000518 Review for gene: KAT2B was set to AMBER Added comment: 1 case with homozygous variants in KAT2B with 2 siblings treated for bilateral cataracts in early childhood, along with a renal phenotype. An additional case where 3 siblings had bilateral cataracts either from birth or in early childhood but were an additional potentially pathogenic variant was found in the ADD gene. PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified. PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only. Sources: Literature |
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