White matter disorders and cerebral calcification - narrow panel
Gene: AIFM1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 2 Jun 2021, 1:48 p.m. | Last Modified: 2 Jun 2021, 1:48 p.m.
Panel Version: 1.137
Comment on publications: PMID: 33439541 - 2 additional casesCreated: 2 Jun 2021, 1:47 p.m. | Last Modified: 2 Jun 2021, 1:47 p.m.
Panel Version: 1.136
Seven unrelated families reported with X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL), an X-linked recessive developmental disorder characterised by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy.
Sources: Expert listCreated: 15 Sep 2020, 7:48 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232
Publications
Tag Q2_21_rating was removed from gene: AIFM1.
Source NHS GMS was added to AIFM1. Source Expert Review Green was added to AIFM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: AIFM1.
Gene: aifm1 has been classified as Amber List (Moderate Evidence).
Publications for gene: AIFM1 were set to 28842795; 27102849
Phenotypes for gene: AIFM1 were changed from Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 to Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
gene: AIFM1 was added gene: AIFM1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 28842795; 27102849 Phenotypes for gene: AIFM1 were set to Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Review for gene: AIFM1 was set to GREEN