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| Severe microcephaly v2.288 | AP4M1 |
Eleanor Williams Tag for-review was removed from gene: AP4M1. Tag missense tag was added to gene: AP4M1. |
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| Severe microcephaly v2.282 | AP4M1 | Sarah Leigh commented on gene: AP4M1: Comment from NHS Genomic Medicine Service: primary presentation is ID/DD/spasticity/hypotonia: green on ID and HSP and hypotonic infant panels - not clear if severe microephaly exists in absence of these. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.282 | AP4M1 | Sarah Leigh commented on gene: AP4M1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.87 | AP4M1 | Arina Puzriakova Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive (MIM#612936) to Spastic paraplegia 50, autosomal recessive, OMIM:612936; Hereditary spastic paraplegia 50, MONDO:0013048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.86 | AP4M1 | Arina Puzriakova Classified gene: AP4M1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.86 | AP4M1 |
Arina Puzriakova Added comment: Comment on list classification: Microcephaly is a variable feature of the disease presentation - often too mild relative to the scope of this panel, or absent altogether. However, there are at least 3 unrelated cases with sufficiently severe microcephaly. Although the overall disorder may be better represented by other panels (e.g. HSP, ID) for which this gene is already Green, microcephaly can be an early manifestation that may be evident prior to other AP4M1-related phenotypes. Therefore, there may be value in inclusion on this panel. Rating Amber, with recommendation of review by the GMS team to assess whether there is sufficient evidence to support a Green rating on this panel (added 'for-review' tag) |
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| Severe microcephaly v2.86 | AP4M1 | Arina Puzriakova Gene: ap4m1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.85 | AP4M1 | Arina Puzriakova Tag for-review tag was added to gene: AP4M1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.85 | AP4M1 | Arina Puzriakova reviewed gene: AP4M1: Rating: ; Mode of pathogenicity: None; Publications: 19559397, 21937992, 24700674, 25496299, 28464862, 29473051, 32337850; Phenotypes: Spastic paraplegia 50, autosomal recessive, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.19 | AP4M1 |
Zornitza Stark gene: AP4M1 was added gene: AP4M1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 28464862; 24700674 Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive (MIM#612936) Review for gene: AP4M1 was set to GREEN gene: AP4M1 was marked as current diagnostic Added comment: Despite the OMIM name, this is a complex neurological condition, where microcephaly is an early prominent presenting feature. PMID: 28464862; - 1x with severe progressive microcephaly (< - 4 SD) - homozygous nonsense PMID: 24700674; - 2x unrelated patients (1 and 3) < -3 SD head circumference - 2x homozygous nonsense Sources: Expert list |
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