Hereditary ataxia with onset in adulthood
Gene: NKX2-1The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:30 p.m. | Last Modified: 1 Feb 2023, 2:30 p.m.
Panel Version: 3.10
It would appear that the concensus is that diseases associated with NKX2-1 variants are seen only in heterozgyotes: OMIM:118700, OMIM:610978, OMIM:188550 (OMIM page last edited 3rd February 2022), Gen2Phen: Choreoathetosis, hypothyroidism, and neonatal respiratory distress and brain-lung-thyroid syndrome MONDO:0012593.Created: 1 Mar 2022, 6:12 p.m. | Last Modified: 1 Mar 2022, 6:12 p.m.
Panel Version: 2.139
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Both AR and AD forms reported widely in the literature, ataxia reported in AR and 'Gait abnormalities' in ADCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hereditary bening chorea, 118700; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978
Tag Q1_22_MOI was removed from gene: NKX2-1.
Mode of inheritance for gene NKX2-1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q1_22_MOI tag was added to gene: NKX2-1.
Mode of inheritance for gene: NKX2-1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene: nkx2-1 has been classified as Green List (High Evidence).
Added phenotypes Hereditary bening chorea, 118700; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 for gene: NKX2-1
Source NHS GMS was added to NKX2-1.
Source Wessex and West Midlands GLH was added to NKX2-1.
Louise Daugherty: Comment on phenotypes: Implica
gene: NKX2-1 was added gene: NKX2-1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 24555207 Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978