Non-acute porphyrias
Gene: ALAD
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 24 Jan 2019, 4:20 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ALAD; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 3:53 p.m.
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in at least 3 cases.Created: 23 Feb 2017, 5:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740
Publications
Publications for gene: ALAD were set to 27604308
Phenotypes for gene: ALAD were changed from Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) to Porphyria, acute hepatic OMIM:612740; porphyria due to ALA dehydratase deficiency MONDO:0013000
Gene: alad has been classified as Green List (High Evidence).
Source Other was added to ALAD. Mode of inheritance for gene ALAD was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) for gene: ALAD Publications for gene ALAD were changed from to 27604308
Source Expert Review Green was added to ALAD. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ALAD was added gene: ALAD was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: ALAD was set to