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| Red cell disorders v1.32 | THRA |
Zornitza Stark gene: THRA was added gene: THRA was added to Red cell disorders. Sources: Expert Review Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 Review for gene: THRA was set to GREEN Added comment: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestations for truncating variants have been observed. Most of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938). Note routine TFTs can be normal. We have identified multiple individuals internally with pathogenic de novo variants in this gene and macrocytic anaemia. Sources: Expert Review |
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| Red cell disorders v0.82 | TF | Zornitza Stark Marked gene: TF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.82 | TF | Zornitza Stark Gene: tf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.82 | TF | Zornitza Stark Phenotypes for gene: TF were changed from Congenital hypotransferrinemia; Atransferrinemia, 209300; 209300 Congenital hypotransferrinemia to Atransferrinaemia MIM# 209300; iron overload; hypochromic anaemia; low serum transferrin; Hemosiderosis of the heart and/or liver; Congestive heart failure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.75 | TF | Danielle Ariti reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 11110675, 3472216; Phenotypes: Atransferrinaemia MIM# 209300, iron overload, hypochromic anaemia, low serum transferrin, Hemosiderosis of the heart and/or liver, Congestive heart failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.1 | TF |
Zornitza Stark Added phenotypes Congenital hypotransferrinemia; Atransferrinemia, 209300; 209300 Congenital hypotransferrinemia for gene: TF Publications for gene TF were updated from 11110675; 1862777; 8187613; 3472216; 10660486 to 8187613; 1862777; 10660486; 3472216; 11110675 |
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| Red cell disorders v0.0 | TF |
Zornitza Stark gene: TF was added gene: TF was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TF were set to 11110675; 1862777; 8187613; 3472216; 10660486 Phenotypes for gene: TF were set to 209300 Congenital hypotransferrinemia; Congenital hypotransferrinemia; Atransferrinemia, 209300 |
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