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Proteinuric renal disease v2.75 LCAT Eleanor Williams Tag Q4_21_rating was removed from gene: LCAT.
Tag Q4_21_NHS_review was removed from gene: LCAT.
Proteinuric renal disease v2.75 LCAT Eleanor Williams commented on gene: LCAT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.74 LCAT Eleanor Williams Source Expert Review Green was added to LCAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.61 LCAT Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: LCAT.
Proteinuric renal disease v2.58 LCAT Eleanor Williams Classified gene: LCAT as Amber List (moderate evidence)
Proteinuric renal disease v2.58 LCAT Eleanor Williams Added comment: Comment on list classification: Leaving rating as amber for now, but with a green rating recommendation following GMS review. There are several reported cases where proteinuria is a prominent feature, plus a green expert review reporting a case of a family presenting with proteinuric kidney disease
Proteinuric renal disease v2.58 LCAT Eleanor Williams Gene: lcat has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v2.57 LCAT Eleanor Williams Phenotypes for gene: LCAT were changed from Norum disease #245900 to Norum disease, OMIM:245900; Norum disease, MONDO:0009515; LCAT DEFICIENCY
Proteinuric renal disease v2.56 LCAT Eleanor Williams Publications for gene: LCAT were set to 6078131
Proteinuric renal disease v2.55 LCAT Eleanor Williams edited their review of gene: LCAT: Changed publications to: 21315357, 30201532, 29535099, 22108153, 28508023, 25657982, 9884427
Proteinuric renal disease v2.55 LCAT Eleanor Williams Tag Q4_21_rating tag was added to gene: LCAT.
Proteinuric renal disease v2.55 LCAT Eleanor Williams edited their review of gene: LCAT: Added comment: Several cases in which proteinuria was noted in patients with LCAT deficiency are reported, including:

PMID: 21315357 - Holleboom et al 2011 - report 3 siblings (age 17, 12 and 3 years) in a family with HDL deficency. The 17-year-old was referred for renal pathology compatible with a metabolic disorder, including FLD. Corneal opacification and proteinuria were observed in all three and they were found to be homozygous for a missense variant in LCAT which disrupted the second disulfide. LCAT protein and activity were undetectable in the patients' plasma. The parents and an unaffected brother were heterozygous for the variant.

PMID: 30201532 - Hanna et al 2018 - report a 29-year-old female who initially presented with discomfort, photophobia, and decreased vision in both eyes. Bilateral corneal clouding, severely reduced HDL cholesterol, and proteinuria were noted. Two heterozygous mutations of the LCAT gene were identified: c.321C>A (p.Tyr107 *) and c.1034C>T (p.Thr345Met)

PMID: 29535099 - Morales et al 2018 - report 44-year-old woman diagnosed with corneal dystrophy and anaemia. Analysis showed proteinuria between 1 and 2 g/day. A missense homozygous variant in the LCAT gene c.368G>C (p (R123p)) was identified.

PMID: 22108153 - Roshan et al 2011 - report a 50-year-old man with uncontrolled hypertension, hemolytic anemia, and renal insufficiency. He had a long history of proteinuria (3+ for at least 30 years). He was found to have diffuse marked corneal opacification. Sequencing the LCAT gene showed a homozygous missense mutation. His parents were first cousins.


Cases presenting with proteinuria with a LCAT deficiency diagnosis but no molecular analyses:

PMID: 28508023 - Balwani et al 2016 - a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency. There was no obvious family history and the patient was without any corneal deposits and normal HDL-C levels. NOTE NO MOLECULAR DIAGNOSIS.

PMID: 25657982 - Mahdi Althaf et al 2015 - 30-year-old male was referred for persistent proteinuria. Bilateral corneal ring opacities were noted. Renal biopsy findings were consistent with LCAT deficiency.; Changed phenotypes to: Norum disease, OMIM:245900, Norum disease, MONDO:0009515, LCAT DEFICIENCY
Proteinuric renal disease v2.48 LCAT Ania Koziell reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: Muthusethupathi MA, Padmanabhan R, Date A, Jayakumar M, Rajendran S, Vijayakumar R. Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India. Nephron. 1999 Jan, 81(1):89-93. doi: 10.1159/000045253. PMID: 9884427.; Phenotypes: proteinuric renal disease, pseudo-membranous nephropathy, unexplained renal failure in young adults; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.218 LCAT Eleanor Williams Classified gene: LCAT as Amber List (moderate evidence)
Proteinuric renal disease v1.218 LCAT Eleanor Williams Added comment: Comment on list classification: Changing the rating from green to amber until a review of the degree of proteinuria in patients with Norum disease has been carried out.
Proteinuric renal disease v1.218 LCAT Eleanor Williams Gene: lcat has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v1.153 LCAT Eleanor Williams Phenotypes for gene: LCAT were changed from to Norum disease #245900
Proteinuric renal disease v1.16 LCAT Eleanor Williams reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Norum disease #245900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.15 LCAT Eleanor Williams Source NHS GMS was added to LCAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease LCAT Sarah Leigh classified LCAT as green
Proteinuric renal disease LCAT Sarah Leigh added LCAT to panel
Proteinuric renal disease LCAT Sarah Leigh reviewed LCAT